Title: The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Authors: Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M.
Journal: Muscle and Nerve
Publication type: article
DOI: 10.1002/mus.26346.