Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.L79delFs
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GJB4

NM_153212.3:p.L79delFs

Associated Papers

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

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

The role of connexins in human disease.

Chang EH et al.

Ear and Hearing, 2003

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y et al.

Neuroreport, 1999

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population.

Al-Janabi AM et al.

Journal of Medicine and Life, 0

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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."