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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADH5

Variant:p.W322fs

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ADH5

NM_000671.4:p.W322fs

hg38:chr4:99072707 C>CN

Associated Papers

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

Matsumoto M et al.

European Journal of Medical Genetics, 2024

38614309 (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."