Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T86S
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GJB1

NM_000166.6:p.T86S

Associated Papers

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].

Khidiianova IM et al.

Genetika, 2008

A fully atomistic model of the Cx32 connexon.

Pantano S et al.

Plos One, 2008

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions.

Ri Y et al.

Biophysical Journal, 1999

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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."