Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.C211*
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GJB6

NM_001110219.3:p.C211*

Associated Papers

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

Gonçalves AC et al.

International Journal of Pediatric Otorhinolaryngology, 2013

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

Feldmann D et al.

American Journal of Medical Genetics. Part A, 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."