Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.A211V
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PDHA1

NM_000284.4:p.A211V

Associated Papers

Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

Georgiou T et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."