Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.S675L
Back to variants list

PYGM

NM_005609.4:p.S675L

Associated Papers

PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.

Carvalho AAS et al.

Plos One, 2020

High frequency of missense mutations in glycogen storage disease type VI.

Beauchamp NJ et al.

Journal of Inherited Metabolic Disease, 2007

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."