Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.F302delFs
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ALDH3A2

NM_000382.3:p.F302delFs

Associated Papers

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

Warrack S et al.

Journal of Child Neurology, 2021

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

Kariminejad A et al.

European Journal of Medical Genetics, 2018

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal.

Keller MA et al.

Journal of Lipid Research, 2010

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

Rizzo WB et al.

Human Mutation, 2005

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Kraus C et al.

European Journal of Human Genetics : Ejhg, 2000

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB et al.

American Journal of Human 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."