Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.A316V
Back to variants list

PDP1

NM_018444.4:p.A316V

Associated Papers

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

Cameron JM et al.

American Journal of Medical Genetics. Part A, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."