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name | text |
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"ADGRG1"xsd:string | "The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string |
"ADGRG1"xsd:string | "The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string |
"ADGRG1"xsd:string | "The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string |
"ADGRG1"xsd:string | "The disease is caused by variants affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968)."xsd:string |
"ADGRE2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ADGRE2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ADGRE2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ADGRE2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALS2"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"IGFALS"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"IGFALS"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"IGFALS"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"IGFALS"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |
"ALPK3"xsd:string | "The disease is caused by variants affecting the gene represented in this entry."xsd:string |