Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R220G
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GJB1

NM_000166.6:p.R220G

Associated Papers

Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins.

Fort AG et al.

Biopolymers, 2009

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW et al.

Neurobiology of Disease, 2002

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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."