Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.K431delFs
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ALDH3A2

NM_000382.3:p.K431delFs

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

Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.

Cho KH et al.

Bmc Medical Genetics, 2018

Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.

Takeichi T et al.

Acta Dermato-venereologica, 2013

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

Rizzo WB et al.

Human Mutation, 2005

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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."