Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.C223Y
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ALDH5A1

NM_001080.3:p.C223Y

Associated Papers

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

Glinton KE et al.

Frontiers in Genetics, 2024

Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.

Jessen-Howard D et al.

International Journal of Molecular Sciences, 2023

37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_

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

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

Di Rosa G et al.

Journal of Inherited Metabolic Disease, 2009

Redox-switch modulation of human SSADH by dynamic catalytic loop.

Kim YG et al.

The Embo Journal, 2009

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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."