Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.V41L
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RDH12

NM_152443.3:p.V41L

Associated Papers

Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

Lee BJH et al.

Ophthalmic Genetics, 2023

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

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Huang L et al.

Scientific Reports, 2017

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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."