Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.T49K
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RDH12

NM_152443.3:p.T49K

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

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.

Fahim AT et al.

The British Journal of Ophthalmology, 2019

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.

Zhang Q et al.

Scientific Reports, 2016

RDH12 retinopathy: novel mutations and phenotypic description.

Mackay DS et al.

Molecular Vision, 2011

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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."