Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Q80P
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GJB1

NM_000166.6:p.Q80P

Associated Papers

Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.

Lorefice L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

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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."