Varaico: Literature-Extracted Genetic Variants

Gene:PGAM2
Variant:p.G93E
Back to variants list

PGAM2

NM_000290.4:p.G93E

Associated Papers

Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.

Koo B et al.

Neuromuscular Disorders : Nmd, 2016

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."