Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R234C
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RDH12

NM_152443.3:p.R234C

Associated Papers

Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.

Testa F et al.

Eye (london, England), 2024

38627549 (PubMed )
Supplement: 41433_2024_3065_MOESM1_ESM.xlsx › chart

Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.

Daich Varela M et al.

Ophthalmology. Retina, 2024

Macular dystrophies associated with Stargardt-like phenotypes.

Amaral RAS et al.

Arquivos Brasileiros De Oftalmologia, 2023

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F et al.

Human Mutation, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."