Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.Y65*
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GJB6

NM_001110219.3:p.Y65*

Associated Papers

The genetic basis of deafness in populations of African descent.

Rudman JR et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.

Chinetti V et al.

International Journal of Audiology, 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

Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.

Gasmelseed NMA et al.

Human Mutation, 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."