Varaico: Literature-Extracted Genetic Variants

Gene:MYOF
Variant:p.S742L
Back to variants list

MYOF

NM_013451.4:p.S742L

Associated Papers

Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series.

Fomina DS et al.

Orphanet Journal of Rare Diseases, 2025

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."