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{
"id": 232,
"name": "Congenital myaesthenic syndrome",
"strs": [],
"genes": [
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen"
],
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"alias": [],
"biotype": "protein_coding",
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"103320"
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}
},
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},
"penetrance": "Complete",
"phenotypes": [
"Congenital myasthenic syndrome",
"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120"
],
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"entity_name": "AGRN",
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"24951643",
"22205389",
"24951643",
"19631309"
],
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"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Wessex and West Midlands GLH",
"Eligibility statement prior genetic testing"
],
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"alias": [
"MGC19780"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:28287",
"gene_name": "ALG14, UDP-N-acetylglucosaminyltransferase subunit",
"omim_gene": [
"612866"
],
"alias_name": null,
"gene_symbol": "ALG14",
"hgnc_symbol": "ALG14",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:95439963-95538501",
"ensembl_id": "ENSG00000172339"
}
},
"GRch38": {
"90": {
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}
},
"hgnc_date_symbol_changed": "2005-08-09"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital myasthenic syndrome",
"?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227"
],
"transcript": null,
"entity_name": "ALG14",
"entity_type": "gene",
"publications": [
"28733338",
"23404334"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"Expert Review Green",
"NHS GMS",
"Wessex and West Midlands GLH",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory"
],
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"CDGIi",
"FLJ14511",
"hALPG2",
"NET38",
"CDG1I"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:23159",
"gene_name": "ALG2, alpha-1,3/1,6-mannosyltransferase",
"omim_gene": [
"607905"
],
"alias_name": null,
"gene_symbol": "ALG2",
"hgnc_symbol": "ALG2",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:101978708-101984238",
"ensembl_id": "ENSG00000119523"
}
},
"GRch38": {
"90": {
"location": "9:99216426-99221956",
"ensembl_id": "ENSG00000119523"
}
}
},
"hgnc_date_symbol_changed": "2003-10-15"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital myasthenic syndromes",
"Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228",
"Congenital disorder of glycosylation CDG type Ii, 607906"
],
"transcript": null,
"entity_name": "ALG2",
"entity_type": "gene",
"publications": [
"23404334"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1912",
"gene_name": "choline O-acetyltransferase",
"omim_gene": [
"118490"
],
"alias_name": null,
"gene_symbol": "CHAT",
"hgnc_symbol": "CHAT",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:50817141-50901925",
"ensembl_id": "ENSG00000070748"
}
},
"GRch38": {
"90": {
"location": "10:49609095-49665104",
"ensembl_id": "ENSG00000070748"
}
}
},
"hgnc_date_symbol_changed": "1990-03-14"
},
"penetrance": "Complete",
"phenotypes": [
"Myasthenic syndrome, congenital, 6, presynaptic, 254210",
"Congenital myasthenics sndrome associated with episodic apnea",
"CMS-EA"
],
"transcript": null,
"entity_name": "CHAT",
"entity_type": "gene",
"publications": [
"11172068",
"12756141"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1955",
"gene_name": "cholinergic receptor nicotinic alpha 1 subunit",
"omim_gene": [
"100690"
],
"alias_name": [
"acetylcholine receptor, nicotinic, alpha 1 (muscle)"
],
"gene_symbol": "CHRNA1",
"hgnc_symbol": "CHRNA1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:175612320-175629200",
"ensembl_id": "ENSG00000138435"
}
},
"GRch38": {
"90": {
"location": "2:174747592-174787935",
"ensembl_id": "ENSG00000138435"
}
}
},
"hgnc_date_symbol_changed": "1989-05-25"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Myasthenic Syndrome, Dominant/Recessive",
"Myasthenic syndrome, congenital, 1A, slow-channel, 601462",
"Myasthenic syndrome, congenital, 1B, fast-channel, 608930",
"Slow channel myasthenic syndrome",
"fast channel myasthenic syndrome",
"Acetylcholine receptor deficiency syndrome"
],
"transcript": null,
"entity_name": "CHRNA1",
"entity_type": "gene",
"publications": [
"7619526",
"15034283",
"PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations."
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [
"deletions"
],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1961",
"gene_name": "cholinergic receptor nicotinic beta 1 subunit",
"omim_gene": [
"100710"
],
"alias_name": [
"acetylcholine receptor, nicotinic, beta 1 (muscle)"
],
"gene_symbol": "CHRNB1",
"hgnc_symbol": "CHRNB1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:7348380-7361026",
"ensembl_id": "ENSG00000170175"
}
},
"GRch38": {
"90": {
"location": "17:7445061-7457707",
"ensembl_id": "ENSG00000170175"
}
}
},
"hgnc_date_symbol_changed": "1989-05-25"
},
"penetrance": "Complete",
"phenotypes": [
"?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314",
"Myasthenic syndrome, congenital, 2A, slow-channel, 616313",
"Slow channel myasthenic syndrome",
"fast channel myasthenic syndrome",
"Acetylcholine receptor deficiency syndrome",
"Myasthenic syndrome, slow-channel congenital, 601462",
"Congenital Myasthenic Syndrome, Dominant/Recessive"
],
"transcript": null,
"entity_name": "CHRNB1",
"entity_type": "gene",
"publications": [
"8651643",
"8872460",
"22104196",
"8651643",
"In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene."
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1965",
"gene_name": "cholinergic receptor nicotinic delta subunit",
"omim_gene": [
"100720"
],
"alias_name": [
"acetylcholine receptor, nicotinic, delta (muscle)"
],
"gene_symbol": "CHRND",
"hgnc_symbol": "CHRND",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:233390703-233401377",
"ensembl_id": "ENSG00000135902"
}
},
"GRch38": {
"90": {
"location": "2:232525993-232536667",
"ensembl_id": "ENSG00000135902"
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}
},
"hgnc_date_symbol_changed": "1986-01-01"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Myasthenic Syndrome, Dominant/Recessive",
"Myasthenic syndrome, slow-channel congenital, 601462",
"Slow channel myasthenic syndrome",
"fast channel myasthenic syndrome",
"Acetylcholine receptor deficiency syndrome",
"?Myasthenic syndrome, congenital, 3A, slow-channel, 616321",
"?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323",
"Myasthenic syndrome, congenital, 3B, fast-channel, 616322"
],
"transcript": null,
"entity_name": "CHRND",
"entity_type": "gene",
"publications": [
"16916845",
"11782989",
"11435464"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": "Other - please provide details in the comments"
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services",
"UKGTN"
],
"gene_data": {
"alias": [
"ACHRE"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1966",
"gene_name": "cholinergic receptor nicotinic epsilon subunit",
"omim_gene": [
"100725"
],
"alias_name": [
"acetylcholine receptor, nicotinic, epsilon (muscle)"
],
"gene_symbol": "CHRNE",
"hgnc_symbol": "CHRNE",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "17:4801069-4806369",
"ensembl_id": "ENSG00000108556"
}
},
"GRch38": {
"90": {
"location": "17:4897774-4903074",
"ensembl_id": "ENSG00000108556"
}
}
},
"hgnc_date_symbol_changed": "1992-04-23"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Myasthenic Syndrome, Dominant/Recessive",
"Myasthenic syndrome, slow-channel congenital, 601462",
"Myasthenic syndrome, congenital, 4A, slow-channel, 605809",
"Myasthenic syndrome, congenital, 4B, fast-channel, 616324",
"Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931",
"Slow channel myasthenic syndrome",
"fast channel myasthenic syndrome",
"Acetylcholine receptor deficiency syndrome",
"Reduced channel conductance syndrome"
],
"transcript": null,
"entity_name": "CHRNE",
"entity_type": "gene",
"publications": [
"12417530",
"14719537",
"25792100",
"24295813",
"21175599"
],
"confidence_level": "3",
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1967",
"gene_name": "cholinergic receptor nicotinic gamma subunit",
"omim_gene": [
"100730"
],
"alias_name": [
"acetylcholine receptor, nicotinic, gamma (muscle)"
],
"gene_symbol": "CHRNG",
"hgnc_symbol": "CHRNG",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:233404437-233411113",
"ensembl_id": "ENSG00000196811"
}
},
"GRch38": {
"90": {
"location": "2:232539727-232546403",
"ensembl_id": "ENSG00000196811"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"penetrance": "Complete",
"phenotypes": [
"Myasthenia gravis, neonatal transient",
"Neonatal congenital myasthenia",
"escobar syndrome",
"fetal akinesia deformation sequence syndrome/FADS",
"multiple pterygium syndrome/MPS"
],
"transcript": null,
"entity_name": "CHRNG",
"entity_type": "gene",
"publications": [
"16826531",
"22167768",
"27245440",
"25411939",
"8040310",
"16826520"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Eligibility statement prior genetic testing",
"Literature"
],
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2190",
"gene_name": "collagen type XIII alpha 1 chain",
"omim_gene": [
"120350"
],
"alias_name": null,
"gene_symbol": "COL13A1",
"hgnc_symbol": "COL13A1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "10:71561644-71724031",
"ensembl_id": "ENSG00000197467"
}
},
"GRch38": {
"90": {
"location": "10:69801931-69964275",
"ensembl_id": "ENSG00000197467"
}
}
},
"hgnc_date_symbol_changed": "1988-08-05"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital myasthenic syndrome type 19",
"Myasthenic syndrome, congenital, 19, 616720"
],
"transcript": null,
"entity_name": "COL13A1",
"entity_type": "gene",
"publications": [
"26626625"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Emory Genetics Laboratory",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [
"EAD"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2226",
"gene_name": "collagen like tail subunit of asymmetric acetylcholinesterase",
"omim_gene": [
"603033"
],
"alias_name": [
"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase",
"collagenic tail of endplate acetylcholinesterase",
"AChE Q subunit",
"acetylcholinesterase-associated collagen"
],
"gene_symbol": "COLQ",
"hgnc_symbol": "COLQ",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:15491640-15563258",
"ensembl_id": "ENSG00000206561"
}
},
"GRch38": {
"90": {
"location": "3:15450133-15521751",
"ensembl_id": "ENSG00000206561"
}
}
},
"hgnc_date_symbol_changed": "1998-09-14"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital Myasthenic Syndrome, Recessive",
"Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency",
"Myasthenic syndrome, congenital, 5, 603034"
],
"transcript": null,
"entity_name": "COLQ",
"entity_type": "gene",
"publications": [
"10665486",
"9689136",
"18180250",
"10441569"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [
"treatable"
],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"Emory Genetics Laboratory",
"UKGTN"
],
"gene_data": {
"alias": [
"FLJ33718",
"FLJ39137",
"Dok-7"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:26594",
"gene_name": "docking protein 7",
"omim_gene": [
"610285"
],
"alias_name": null,
"gene_symbol": "DOK7",
"hgnc_symbol": "DOK7",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "4:3465033-3503200",
"ensembl_id": "ENSG00000175920"
}
},
"GRch38": {
"90": {
"location": "4:3463311-3494483",
"ensembl_id": "ENSG00000175920"
}
}
},
"hgnc_date_symbol_changed": "2006-08-24"
},
"penetrance": "Complete",
"phenotypes": [
"Myasthenic syndrome, congenital, 10, 254300",
"Myasthenia, limb-girdle, familial",
"Limb girdle congenital myasthenic syndrome"
],
"transcript": null,
"entity_name": "DOK7",
"entity_type": "gene",
"publications": [
"16917026",
"17452375",
"22661499",
"18626973"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"UKGTN",
"Radboud University Medical Center, Nijmegen"
],
"gene_data": {
"alias": [
"GPT",
"D11S366",
"DGPT",
"ALG7",
"CDG-Ij"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:2995",
"gene_name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
"omim_gene": [
"191350"
],
"alias_name": [
"GlcNAc-1-P transferase 1",
"UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"
],
"gene_symbol": "DPAGT1",
"hgnc_symbol": "DPAGT1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:118967213-118979041",
"ensembl_id": "ENSG00000172269"
}
},
"GRch38": {
"90": {
"location": "11:119096503-119108331",
"ensembl_id": "ENSG00000172269"
}
}
},
"hgnc_date_symbol_changed": "1993-12-13"
},
"penetrance": "Complete",
"phenotypes": [
"Congenital disorder of glycosylation, type Ij, 608093",
"Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750",
"Limb girdle congenital myasthenic",
"tubular aggregates",
"congenital disorder of glycosylation type Ij (CDG-IJ)"
],
"transcript": null,
"entity_name": "DPAGT1",
"entity_type": "gene",
"publications": [
"22742743",
"23278575",
"23447650",
"23591138",
"25500013"
],
"confidence_level": "3",
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"mode_of_pathogenicity": ""
},
{
"tags": [],
"evidence": [
"NHS GMS",
"Wessex and West Midlands GLH",
"Expert Review Green",
"Radboud University Medical Center, Nijmegen",
"UKGTN",
"Illumina TruGenome Clinical Sequencing Services"
],
"gene_data": {
"alias": [
"GFAT",
"GFA",
"GFAT1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:4241",
"gene_name": "glutamine--fructose-6-phosphate transaminase 1",
"omim_gene": [
"138292"
],
"alias_name": null,
"gene_symbol": "GFPT1",
"hgnc_symbol": "GFPT1",
"hgnc_release": "2017-11-03T00:00:00",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "2:69546905-69614382",
"ensembl_id": "ENSG00000198380"
}
},
"GRch38": {
"90": {
"location": "2:69319769-69387254",
"ensembl_id": "ENSG00000198380"
}
}
},
"hgnc_date_symbol_changed": "1993-12-14"
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}
},
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},
{
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"mode_of_pathogenicity": ""
},
{
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"evidence": [
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}
},
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},
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},
{
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},
{
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"Wessex and West Midlands GLH"
],
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},
{
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],
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},
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"name": "Rare Disease 100K",
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{
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{
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}