Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Volume: 28, Issue: 2, Pages: 231 - 243
Published: Sep 20, 2019
Abstract
Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study was to assess the ratio of SNVs in known deafness genes contributing to the etiology of both sporadic and familial sensorineural hearing loss patients from China. DNA samples from 1127 individuals, including normal hearing controls ( n = 616), sporadic SNHL patients...
Paper Details
Title
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
DOI
Published Date
Sep 20, 2019
Journal
Volume
28
Issue
2
Pages
231 - 243
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