Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.A301P
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ALDH3A2

NM_000382.3:p.A301P

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

Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.

Haug S et al.

Gene Therapy, 2006

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

Rizzo WB et al.

Human Mutation, 2005

[Sjögren-Larsson syndrome].

Möhrenschlager M et al.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2000

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

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."