Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.K42fs
Back to variants list

PYGM

NM_005609.4:p.K42fs

Associated Papers

Camptocormia as a feature of Mc Ardle's disease: A case report.

Nicolas M et al.

Molecular Genetics and Metabolism Reports, 2025

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Chéraud C et al.

Muscle & Nerve, 2018

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."