Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.Q57*
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GJB6

NM_001110219.3:p.Q57*

Associated Papers

Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.

Caragli V et al.

Genes, 2025

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.

Hernandez-Nieto C et al.

Prenatal Diagnosis, 2020

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

Marlin S et al.

Archives of Otolaryngology--head & Neck Surgery, 2005

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."