Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.P653L
Back to variants list

POMT2

NM_013382.7:p.P653L

Associated Papers

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE et al.

Neuromuscular Disorders : Nmd, 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."