Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.G12delFs
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GJB4

NM_153212.3:p.G12delFs

Associated Papers

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result.

Rossell A et al.

European Journal of Pediatrics, 2025

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Aliazami F et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Molecular study of patients with auditory neuropathy.

Carvalho GM et al.

Molecular Medicine Reports, 2016

Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.

Li TC et al.

Molecular Medicine Reports, 2015

Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.

Wu CC et al.

Plos One, 2013

Human connexin disorders of the skin.

Richard G

Cell Communication & Adhesion, 2001

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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."