Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.L79fs
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GJB6

NM_001110219.3:p.L79fs

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

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Abbaspour Rodbaneh E et al.

Journal of Clinical Laboratory Analysis, 2021

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D et al.

Clinical 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."