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| Albinism or congenital nystagmus v0.2 | SLC24A5 |
Ellen McDonagh gene: SLC24A5 was added gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A5 were set to 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 27129268 - functional data to support the phenotypic effects of variants reported; 23364476 - case report of patient of Chinese origin; 26686029 case identified in a cohort South-Italian origin Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI; Non-Syndromic Oculocutaneous Albinism |
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