Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.C226W
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ALDH3A2

NM_000382.3:p.C226W

Associated Papers

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Keller MA et al.

Nature Communications, 2014

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.

Wang LL et al.

Alcohol (fayetteville, N.y.), 2010

Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.

Gånemo A et al.

Acta Dermato-venereologica, 2009

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Rizzo WB et al.

Human Mutation, 2005

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Sillén A et al.

Human Mutation, 1998

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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."