Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.G59_C64delFs
Back to variants list

GJB6

NM_001110219.3:p.G59_C64delFs

Associated Papers

Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).

Ren B et al.

Plos One, 2026

Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.

Ozgur Z et al.

International Journal of Pediatric Otorhinolaryngology, 2025

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

Cai L et al.

Frontiers in Genetics, 2021

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

Du W et al.

Acta Oto-laryngologica, 2014

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.

Yin A et al.

Bmc Medical Genetics, 2013

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

Zhao FF et al.

Genetic Testing and Molecular Biomarkers, 2011

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y et al.

Journal of Translational Medicine, 2009

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC et al.

Ear and Hearing, 2009

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."