Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.C223R
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ALDH5A1

NM_001080.3:p.C223R

Associated Papers

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

Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Kim KJ et al.

Antioxidants & Redox Signaling, 2011

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

Di Rosa G et al.

Journal of Inherited Metabolic Disease, 2009

Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Malaspina P et al.

Human Genomics, 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."