Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.Y136*
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GJB6

NM_001110219.3:p.Y136*

Associated Papers

Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up.

Sakata A et al.

International Journal of Molecular Sciences, 2023

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.

Pandya A et al.

Molecular Genetics & Genomic Medicine, 2020

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Vestibular function of patients with profound deafness related to GJB2 mutation.

Kasai M et al.

Acta Oto-laryngologica, 2010

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

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S et al.

Journal of Medical Genetics, 2000

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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."