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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH5A1

Variant:p.S208fs

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ALDH5A1

NM_001080.3:p.S208fs

hg38:chr6:24504881 AGT>N

Associated Papers

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.

Peters TMA et al.

Journal of Inherited Metabolic Disease, 2024

37455357 (PubMed )

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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."