Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.A262delFs
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RDH12

NM_152443.3:p.A262delFs

Associated Papers

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2022

Large choroidal excavation in retinitis pigmentosa: A case report.

Iacono P et al.

European Journal of Ophthalmology, 2020

Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.

Sofia F et al.

Translational Vision Science & Technology, 2020

32855876 (PubMed )
Supplement: tvst-9-8-30_s001.docx

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.

Yohe S et al.

Molecular Genetics & Genomic Medicine, 2020

31816670 (PubMed )
Supplement: MGG3-8-e1081-s001.xlsx › RD_Panel
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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."