Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.C41R
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PDHA1

NM_000284.4:p.C41R

Associated Papers

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Shimbo H et al.

Molecular Genetics and Metabolism Reports, 2014

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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."