Varaico: Literature-Extracted Genetic Variants

Gene:PGAM2
Variant:p.R10Q
Back to variants list

PGAM2

NM_000290.4:p.R10Q

Associated Papers

Genetic defects are common in myopathies with tubular aggregates.

Gang Q et al.

Annals of Clinical and Translational Neurology, 2022

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama.

Salameh J et al.

Muscle & Nerve, 2013

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Tonin P et al.

Neuromuscular Disorders : Nmd, 2009

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."