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"number_of_regions": 0
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{
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{
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{
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{
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"Steinkeller et al (2015) Eur J Hum Genet 23:1186-1191",
"Dagoneau et al (2004) Am J Hum Genet 75:801-806",
"Li et al (2004) Mol Vis 20:1017",
"PMID: 25469541",
"15368195"
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{
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{
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{
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"autosomal recessive complex spastic paraplegia type 9B MONDO:0014702"
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{
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{
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{
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{
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{
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{
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{
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{
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{
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],
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},
{
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"UKGTN"
],
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"Warburg micro syndrome 2, OMIM:614225"
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},
{
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},
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}
},
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},
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"Gillespie et al (2014) Ophthalmology 121(11):2124-37"
],
"evidence": [
"Expert Review Green",
"UKGTN"
],
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"tags": [],
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},
{
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"ULG5"
],
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"608005"
],
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}
},
"GRch38": {
"90": {
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}
},
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},
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"Expert Review Green",
"UKGTN"
],
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"Marinesco-Sjogren syndrome, 248800"
],
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"tags": [],
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},
{
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],
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],
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}
},
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}
},
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},
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"20181839",
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},
{
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],
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"138140"
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}
},
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}
}
},
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},
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"Expert Review Green",
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],
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],
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},
{
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}
},
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],
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"Congenital cataracts hearing loss and neurodegeneration",
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],
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},
{
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},
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}
},
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],
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"Expert Review Green",
"UKGTN"
],
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},
{
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},
"GRch38": {
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}
},
"hgnc_date_symbol_changed": "1994-11-23"
},
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},
{
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],
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},
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}
},
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},
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"24435515",
"Lachke et al (2011) Science 331(6024):1571-1576"
],
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"Expert Review Green",
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"Radboud University Medical Center, Nijmegen",
"Illumina TruGenome Clinical Sequencing Services"
],
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"Cataract 36, 613887"
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},
{
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"AP-2"
],
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],
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},
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}
}
},
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},
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],
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],
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},
{
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},
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}
},
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},
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{
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},
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},
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{
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},
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}
}
},
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],
"phenotypes": [
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"tags": [],
"transcript": null
},
{
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],
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},
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}
},
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"Expert list"
],
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"entity_name": "UBE2U",
"confidence_level": "1",
"penetrance": null,
"mode_of_pathogenicity": null,
"publications": [
"33776059"
],
"evidence": [
"Literature",
"Expert Review Red"
],
"phenotypes": [
"Retinoschisis, MONDO:0004579",
"cataracts",
"learning disability, MONDO:0004681",
"developmental delay"
],
"mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"tags": [],
"transcript": []
}
],
"strs": [],
"regions": []
}