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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALDH5A1

Variant:p.R113_E114ins5

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ALDH5A1

NM_001080.3:p.R113_E114ins5

hg38:chr6:24495333 A>ANNNNNNNNNNNNNNN

Associated Papers

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Julia-Palacios NA et al.

Journal of Inherited Metabolic Disease, 2024

38499966 (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."