Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.K437*
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ALDH3A2

NM_000382.3:p.K437*

Associated Papers

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

Warrack S et al.

Journal of Child Neurology, 2021

Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Park J et al.

Molecular Genetics & Genomic Medicine, 2019

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Cho KH et al.

Clinical 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 mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K et al.

Journal of Child Neurology, 2013

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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."