Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.P62S
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ALDH6A1

NM_005589.4:p.P62S

Associated Papers

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Sass JO et al.

Journal of Inherited Metabolic Disease, 2012

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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."