Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.L90V
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GJB6

NM_001110219.3:p.L90V

Associated Papers

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

Han XH et al.

Genetica, 2014

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

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

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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."