Varaico: Literature-Extracted Genetic Variants

Gene:GJC1
Variant:p.V84L
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GJC1

NM_005497.4:p.V84L

Associated Papers

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Hoang Dinh E et al.

Brain Research, 2009

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

Bruzzone R et al.

Febs Letters, 2003

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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."