Structural and functional characterization of an individual with the M285R < em > KCNV2 < /em > hypomorphic allele

CONCLUSIONS: We provide functional and structural evidence that the variant M285R is disease-causing if associated with a loss-of-function variant. To the best of our knowledge, this is the first hypomorphic allele reported in KCNV2.PMID:38454848 | DOI:10.1080/13816810.2024.2324046

Source: Ophthalmic Genetics - March 8, 2024 Category: Opthalmology Authors: Thales A C de Guimaraes Francesco Lai Raffaella Colombatti Giovanni Sato Roberta Rizzo Angelos Kalitzeos Michel Michaelides Source Type: research