Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.R535C
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ALDH6A1

NM_005589.4:p.R535C

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_

Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).

Chen CH et al.

Biomolecules, 2021

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."