Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.G59fs
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GJB2

NM_004004.6:p.G59fs

Associated Papers

Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.

Lin PH et al.

Clinical and Experimental Otorhinolaryngology, 2025

Comparative analysis of allele frequencies of 15 deafness gene variants between hearing-loss and normal populations in Henan, China.

Tian Y et al.

Heliyon, 2023

Hereditary deafness carrier screening in 9,993 Chinese individuals.

Liu Y et al.

Frontiers in Genetics, 2023

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

Xiang J et al.

Bmc Medical Genomics, 2022

35761346 (PubMed )
Supplement: 12920_2022_1293_MOESM3_ESM.xlsx › Table_S2

Genetic background in late-onset sensorineural hearing loss patients.

Uehara N et al.

Journal of Human Genetics, 2022

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S et al.

Plos One, 2012

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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."