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| Syndromic Retinopathy v0.43 | DTHD1 |
Bryony Thompson gene: DTHD1 was added gene: DTHD1 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: DTHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DTHD1 were set to 23105016 Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with muscle dystrophy Review for gene: DTHD1 was set to RED Added comment: Single family reported with homozygous initiation codon variant. Reduced protein expression demonstrated by Western blot. Sources: Expert list |
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