Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.L247P
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RDH12

NM_152443.3:p.L247P

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

35994252 (PubMed )
Supplement: iovs-63-9-24_s004.xlsx › Sheet1

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

Sharon D et al.

Molecular Vision, 2015

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2014

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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."