Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.N255S
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ALDH5A1

NM_001080.3:p.N255S

Associated Papers

Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.

Didiasova M et al.

International Journal of Molecular Sciences, 2024

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Glinton KE et al.

Frontiers in Genetics, 2024

39011401 (PubMed )
Supplement: Table1.xlsx › Table_S1

Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Pearl PL et al.

Developmental Medicine and Child Neurology, 2015

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.

Wang LL et al.

Alcohol (fayetteville, N.y.), 2010

The X-ray crystal structure of Escherichia coli succinic semialdehyde dehydrogenase; structural insights into NADP+/enzyme interactions.

Langendorf CG et al.

Plos One, 2010

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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."