Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.W44*
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GJB6

NM_001110219.3:p.W44*

Associated Papers

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

Morris JA et al.

International Journal of Molecular Sciences, 2026

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Systematic Review of Hearing Loss Genes in the African American Population.

Worden CP et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2019

Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.

Lipan M et al.

The Laryngoscope, 2011

Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.

Angeli SI

The Laryngoscope, 2008

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Tang HY et al.

American Journal of Medical Genetics. Part A, 2006

Molecular epidemiology of DFNB1 deafness in France.

Roux AF et al.

Bmc Medical Genetics, 2004

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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."