Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.H151N
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RDH12

NM_152443.3:p.H151N

Associated Papers

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

AlEissa MM et al.

Genes, 2025

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

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

22334370 (PubMed )
Supplement: humu0033-0963-sd1.pdf

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Perrault I et al.

American Journal of Human Genetics, 2004

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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."