Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.G252D
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ALDH5A1

NM_001080.3:p.G252D

Associated Papers

The Great Genotyper: a graph-based method for population genotyping of small and structural variants.

Shokrof M et al.

Gigascience, 2025

41041811 (PubMed )
Supplement: giaf112_supplemental_files.zip › Supplementary_table_3.xlsx › case_study

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Tokatly Latzer I et al.

Human Genetics, 2023

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Latzer IT et al.

Research Square, 2023

The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.

Tokatly Latzer I et al.

Epilepsia, 2023

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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."