Varaico: Literature-Extracted Genetic Variants

Gene:ALDH3A2
Variant:p.Q157_D158Splc
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ALDH3A2

NM_000382.3:p.Q157_D158Splc

Associated Papers

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

Sarret C et al.

Journal of the Neurological Sciences, 2012

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

Rizzo WB et al.

Human Mutation, 2005

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Akaboshi S et al.

Human Mutation, 2003

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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."