Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R127L
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GJB6

NM_001110219.3:p.R127L

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

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

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Felix F et al.

Brazilian Journal of Otorhinolaryngology, 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."