Missense Variant of Endoplasmic Reticulum Region of < em > WFS1 < /em > Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

CONCLUSIONS: In this family, we identified a novel variant p.Gly674Trp of WFS1 as the primary pathogenic variant causing the low-frequency sensorineural HL, enriching the mutational spectrum of the WFS1 gene.PMID:34258273 | PMC:PMC8260318 | DOI:10.1155/2021/6624744

Source: Biomed Res - July 14, 2021 Category: Research Authors: Jinying Li Hongen Xu Jianfeng Sun Yongan Tian Danhua Liu Yaping Qin Huanfei Liu Ruijun Li Lingling Neng Xiaohua Deng Binbin Xue Changyun Yu Wenxue Tang Source Type: research