Varaico: Literature-Extracted Genetic Variants

Gene:PGM2
Variant:p.T19A
Back to variants list

PGM2

NM_018290.4:p.T19A

Associated Papers

Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.

Beamer LJ

Journal of Inherited Metabolic Disease, 2015

Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

Lee Y et al.

The Journal of Biological Chemistry, 2014

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."