Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L90V
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GJB3

NM_024009.3:p.L90V

Associated Papers

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

Han XH et al.

Genetica, 2014

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

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case.

Rohatgi S et al.

Annals of African Medicine, 0

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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."