Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.Y172H
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ALDH6A1

NM_005589.4:p.Y172H

Associated Papers

Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.

Jessen-Howard D et al.

International Journal of Molecular Sciences, 2023

37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Marcadier JL et al.

Orphanet Journal of Rare Diseases, 2013

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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."