Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V197I
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GJB3

NM_024009.3:p.V197I

Associated Papers

Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.

Xu C et al.

Molecular Genetics & Genomic Medicine, 2025

Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.

Niu L et al.

Archives of Medical Science : Ams, 2024

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.

Cai L et al.

Frontiers in Genetics, 2021

Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.

Zhao P et al.

Medicine, 2018

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Yao G et al.

Acta Oto-laryngologica, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."