Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.C93R
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ALDH5A1

NM_001080.3:p.C93R

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
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