Varaico: Literature-Extracted Genetic Variants

Gene:RDH5
Variant:p.I33V
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RDH5

NM_002905.5:p.I33V

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.

Hirose E et al.

Investigative Ophthalmology & Visual Science, 2000

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.

Yamamoto H et al.

Nature Genetics, 1999

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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."