Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.Q80E
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PDHA1

NM_000284.4:p.Q80E

Associated Papers

Maple syrup urine disease: mutation analysis in Turkish patients.

Dursun A et al.

Journal of Inherited Metabolic Disease, 2002

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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."