Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.G59_C64delFs
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GJB3

NM_024009.3:p.G59_C64delFs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.

Li J et al.

International Journal of Neonatal Screening, 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

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China.

Tang X et al.

Frontiers in Pediatrics, 2021

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

Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.

Shen N et al.

Oncotarget, 2017

Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.

Wang X et al.

Scientific Reports, 2017

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

Jiang H et al.

Molecular Medicine Reports, 2014

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

Yao G et al.

Acta Oto-laryngologica, 2013

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

Yuan Y et al.

Journal of Translational Medicine, 2009

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.

Li CX et al.

Human Mutation, 2008

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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."