Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.W383fs
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PDHA1

NM_000284.4:p.W383fs

Associated Papers

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD et al.

Molecular Genetics and Metabolism, 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."