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{
"id": 563,
"hash_id": null,
"name": "Vascular skin disorders",
"disease_group": "",
"disease_sub_group": "",
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"version_created": "2024-03-25T15:56:37.206898Z",
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"number_of_strs": 0,
"number_of_regions": 0
},
"types": [
{
"name": "GMS Rare Disease Virtual",
"slug": "gms-rare-disease-virtual",
"description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
},
{
"name": "GMS Rare Disease",
"slug": "gms-rare-disease",
"description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
},
{
"name": "GMS signed-off",
"slug": "gms-signed-off",
"description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
}
],
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{
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"ALK1",
"HHT"
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"biotype": "protein_coding",
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"gene_name": "activin A receptor like type 1",
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],
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"hgnc_symbol": "ACVRL1",
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"ensembl_id": "ENSG00000139567"
}
}
},
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},
"entity_type": "gene",
"entity_name": "ACVRL1",
"confidence_level": "3",
"penetrance": null,
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],
"evidence": [
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"NHS GMS",
"Expert Review Green"
],
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],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
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"TTP",
"vWF-CP",
"FLJ42993",
"MGC118899",
"MGC118900",
"DKFZp434C2322"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1366",
"gene_name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
"omim_gene": [
"604134"
],
"alias_name": null,
"gene_symbol": "ADAMTS13",
"hgnc_symbol": "ADAMTS13",
"hgnc_release": "2017-11-03",
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}
},
"GRch38": {
"90": {
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"ensembl_id": "ENSG00000160323"
}
}
},
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},
"entity_type": "gene",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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],
"evidence": [
"Expert Review Green"
],
"phenotypes": [
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"tags": [],
"transcript": null
},
{
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"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:397",
"gene_name": "5'-aminolevulinate synthase 2",
"omim_gene": [
"301300"
],
"alias_name": [
"sideroblastic/hypochromic anemia"
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"gene_symbol": "ALAS2",
"hgnc_symbol": "ALAS2",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "X:55035488-55057497",
"ensembl_id": "ENSG00000158578"
}
},
"GRch38": {
"90": {
"location": "X:55009055-55031064",
"ensembl_id": "ENSG00000158578"
}
}
},
"hgnc_date_symbol_changed": "1989-05-25"
},
"entity_type": "gene",
"entity_name": "ALAS2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"18760763"
],
"evidence": [
"Expert Review Green",
"Expert Review"
],
"phenotypes": [
"Protoporphyria, erythropoietic, X-linked, OMIM:300752"
],
"mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"TEL1",
"TELO1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:795",
"gene_name": "ATM serine/threonine kinase",
"omim_gene": [
"607585"
],
"alias_name": [
"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"
],
"gene_symbol": "ATM",
"hgnc_symbol": "ATM",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "11:108093211-108239829",
"ensembl_id": "ENSG00000149311"
}
},
"GRch38": {
"90": {
"location": "11:108222484-108369102",
"ensembl_id": "ENSG00000149311"
}
}
},
"hgnc_date_symbol_changed": "1995-07-07"
},
"entity_type": "gene",
"entity_name": "ATM",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7792600"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Ataxia telengiectasia, OMIM:208900"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"FLJ30681",
"KIAA1983"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:29426",
"gene_name": "collagen and calcium binding EGF domains 1",
"omim_gene": [
"612753"
],
"alias_name": null,
"gene_symbol": "CCBE1",
"hgnc_symbol": "CCBE1",
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"82": {
"location": "18:57098172-57364612",
"ensembl_id": "ENSG00000183287"
}
},
"GRch38": {
"90": {
"location": "18:59430940-59697380",
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}
},
"hgnc_date_symbol_changed": "2005-01-18"
},
"entity_type": "gene",
"entity_name": "CCBE1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"19935664"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [
"Q1_24_demote_red",
"Q1_24_expert_review"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"END",
"HHT1",
"CD105"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3349",
"gene_name": "endoglin",
"omim_gene": [
"131195"
],
"alias_name": null,
"gene_symbol": "ENG",
"hgnc_symbol": "ENG",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "9:130577291-130617035",
"ensembl_id": "ENSG00000106991"
}
},
"GRch38": {
"90": {
"location": "9:127815012-127854756",
"ensembl_id": "ENSG00000106991"
}
}
},
"hgnc_date_symbol_changed": "1993-03-03"
},
"entity_type": "gene",
"entity_name": "ENG",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"7894484"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"Tyro11"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3395",
"gene_name": "EPH receptor B4",
"omim_gene": [
"600011"
],
"alias_name": null,
"gene_symbol": "EPHB4",
"hgnc_symbol": "EPHB4",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:100400187-100425121",
"ensembl_id": "ENSG00000196411"
}
},
"GRch38": {
"90": {
"location": "7:100802565-100827521",
"ensembl_id": "ENSG00000196411"
}
}
},
"hgnc_date_symbol_changed": "1994-12-15"
},
"entity_type": "gene",
"entity_name": "EPHB4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"28687708"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Capillary malformation-arteriovenous malformation 2, OMIM:618196"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3530",
"gene_name": "coagulation factor XII",
"omim_gene": [
"610619"
],
"alias_name": null,
"gene_symbol": "F12",
"hgnc_symbol": "F12",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:176829141-176836577",
"ensembl_id": "ENSG00000131187"
}
},
"GRch38": {
"90": {
"location": "5:177402140-177409576",
"ensembl_id": "ENSG00000131187"
}
}
},
"hgnc_date_symbol_changed": "2001-06-22"
},
"entity_type": "gene",
"entity_name": "F12",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"16638441"
],
"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Angioedema, hereditary, type III, OMIM:610618",
"Factor XII deficiency, OMIM:234000"
],
"mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3647",
"gene_name": "ferrochelatase",
"omim_gene": [
"612386"
],
"alias_name": [
"protoporphyria"
],
"gene_symbol": "FECH",
"hgnc_symbol": "FECH",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "18:55215515-55254004",
"ensembl_id": "ENSG00000066926"
}
},
"GRch38": {
"90": {
"location": "18:57548283-57586772",
"ensembl_id": "ENSG00000066926"
}
}
},
"hgnc_date_symbol_changed": "1990-05-14"
},
"entity_type": "gene",
"entity_name": "FECH",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"9649563"
],
"evidence": [
"Expert Review Green"
],
"phenotypes": [
"Protoporphyria, erythropoietic, 1, OMIM:177000"
],
"mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"VEGFR3",
"PCL"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3767",
"gene_name": "fms related tyrosine kinase 4",
"omim_gene": [
"136352"
],
"alias_name": null,
"gene_symbol": "FLT4",
"hgnc_symbol": "FLT4",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:180028506-180076624",
"ensembl_id": "ENSG00000037280"
}
},
"GRch38": {
"90": {
"location": "5:180601506-180649624",
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}
},
"hgnc_date_symbol_changed": "1991-10-25"
},
"entity_type": "gene",
"entity_name": "FLT4",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
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"11807987"
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"evidence": [
"Expert Review Green",
"London North GLH",
"NHS GMS"
],
"phenotypes": [
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"somatic",
"Q1_24_demote_red",
"Q1_24_expert_review"
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},
{
"gene_data": {
"alias": [
"MFH-1"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:3801",
"gene_name": "forkhead box C2",
"omim_gene": [
"602402"
],
"alias_name": [
"mesenchyme forkhead 1"
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"hgnc_symbol": "FOXC2",
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"GRch37": {
"82": {
"location": "16:86600857-86602539",
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}
},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1997-02-14"
},
"entity_type": "gene",
"entity_name": "FOXC2",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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],
"evidence": [
"Expert Review Green",
"London North GLH",
"NHS GMS"
],
"phenotypes": [
"Lymphoedema-distichiasis syndrome, OMIM:153400"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [
"Q1_24_demote_red",
"Q1_24_expert_review"
],
"transcript": null
},
{
"gene_data": {
"alias": [
"FAP48",
"GLML",
"GVM",
"FKBPAP"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:14373",
"gene_name": "glomulin, FKBP associated protein",
"omim_gene": [
"601749"
],
"alias_name": null,
"gene_symbol": "GLMN",
"hgnc_symbol": "GLMN",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "1:92711959-92764544",
"ensembl_id": "ENSG00000174842"
}
},
"GRch38": {
"90": {
"location": "1:92246402-92298987",
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}
},
"hgnc_date_symbol_changed": "2003-07-14"
},
"entity_type": "gene",
"entity_name": "GLMN",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"11845407"
],
"evidence": [
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"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"Glomulovenous malformations, OMIM:138000"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"CAM"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:1573",
"gene_name": "KRIT1, ankyrin repeat containing",
"omim_gene": [
"604214"
],
"alias_name": null,
"gene_symbol": "KRIT1",
"hgnc_symbol": "KRIT1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "7:91828283-91875480",
"ensembl_id": "ENSG00000001631"
}
},
"GRch38": {
"90": {
"location": "7:92198969-92246166",
"ensembl_id": "ENSG00000001631"
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}
},
"hgnc_date_symbol_changed": "2005-03-17"
},
"entity_type": "gene",
"entity_name": "KRIT1",
"confidence_level": "3",
"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
"10508515"
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"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
"CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"PI3K"
],
"biotype": "protein_coding",
"hgnc_id": "HGNC:8975",
"gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
"omim_gene": [
"171834"
],
"alias_name": null,
"gene_symbol": "PIK3CA",
"hgnc_symbol": "PIK3CA",
"hgnc_release": "2017-11-03",
"ensembl_genes": {
"GRch37": {
"82": {
"location": "3:178865902-178957881",
"ensembl_id": "ENSG00000121879"
}
},
"GRch38": {
"90": {
"location": "3:179148114-179240093",
"ensembl_id": "ENSG00000121879"
}
}
},
"hgnc_date_symbol_changed": "1994-07-15"
},
"entity_type": "gene",
"entity_name": "PIK3CA",
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"penetrance": null,
"mode_of_pathogenicity": "",
"publications": [
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"22729223",
"22729222",
"23246288",
"22729224"
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"evidence": [
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"Expert Review Green"
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"phenotypes": [
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"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
"alias": [
"P85B",
"p85"
],
"biotype": "protein_coding",
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"omim_gene": [
"603157"
],
"alias_name": [
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"hgnc_symbol": "PIK3R2",
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"82": {
"location": "19:18263928-18281350",
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},
"GRch38": {
"90": {
"location": "19:18153118-18170540",
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}
},
"hgnc_date_symbol_changed": "1992-12-08"
},
"entity_type": "gene",
"entity_name": "PIK3R2",
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"mode_of_pathogenicity": "",
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"28502725",
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"evidence": [
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"Expert Review Green"
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"phenotypes": [
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"tags": [],
"transcript": null
},
{
"gene_data": {
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"CM-AVM",
"p120GAP",
"p120RASGAP",
"p120"
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"gene_name": "RAS p21 protein activator 1",
"omim_gene": [
"139150"
],
"alias_name": [
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"p120 RAS GTPase activating protein"
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"hgnc_symbol": "RASA1",
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"ensembl_genes": {
"GRch37": {
"82": {
"location": "5:86563705-86687748",
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},
"GRch38": {
"90": {
"location": "5:87267888-87391931",
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}
}
},
"hgnc_date_symbol_changed": "1989-06-30"
},
"entity_type": "gene",
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"evidence": [
"London North GLH",
"NHS GMS",
"Expert Review Green"
],
"phenotypes": [
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],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": null
},
{
"gene_data": {
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"PN1",
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"NENA",
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{
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{
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}
],
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}