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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHB

Variant:p.A163S

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PDHB

NM_000925.4:p.A163S

hg38:chr3:58430759 C>A

Associated Papers

Mutational spectrum of maple syrup urine disease in Spain.

Rodríguez-Pombo P et al.

Human Mutation, 2006

16786533 (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."