Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C64S
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GJB1

NM_000166.6:p.C64S

Associated Papers

Structural basis for the selective permeability of channels made of communicating junction proteins.

Ek-Vitorin JF et al.

Biochimica Et Biophysica Acta, 2013

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

Oshima A et al.

The Journal of Biological Chemistry, 2003

Common themes in peripheral neuropathy disease genes.

Snipes GJ et al.

Cell Biology International, 1998

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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."