Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.R180Q
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GJB3

NM_024009.3:p.R180Q

Associated Papers

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Sampaio-Silva J et al.

Annals of Human Genetics, 2018

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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."