Varaico: Literature-Extracted Genetic Variants

Gene:PYROXD1
Variant:p.L110_C111delFs
Back to variants list

PYROXD1

NM_024854.5:p.L110_C111delFs

Associated Papers

A rare case of myopathy with fatigability due to PYROXD1 variation.

Baskar D et al.

Journal of Neuromuscular Diseases, 2025

Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.

Daimagüler HS et al.

American Journal of Medical Genetics. Part A, 2021

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."