Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.S212R
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ALDH3A2

NM_000382.3:p.S212R

Associated Papers

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Kariminejad A et al.

European Journal of Medical Genetics, 2018

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

Keller MA et al.

Nature Communications, 2014

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome.

Sakai K et al.

The Journal of Investigative Dermatology, 2006

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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."