Journal article
In silico analysis of TRPM4 variants of unknown clinical significance
Abstract
BACKGROUND: TRPM4 is a calcium-activated channel that selectively permeates monovalent cations. Genetic variants of the channel in cardiomyocytes are associated with various heart disorders, such as progressive familial heart block and Brugada syndrome. About97% of all known TRPM4 missense variants are classified as variants of unknown clinical significance (VUSs). The very large number of VUSs is a serious problem in diagnostics and treatment …
Authors
Tarnovskaya SI; Kostareva AA; Zhorov BS
Journal
PLOS ONE, Vol. 18, No. 12,
Publisher
Public Library of Science (PLoS)
DOI
10.1371/journal.pone.0295974
ISSN
1932-6203