Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y7D
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GJB1

NM_000166.6:p.Y7D

Associated Papers

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Qi C et al.

Science Advances, 2023

37647412 (PubMed )
Supplement: sciadv.adh4890_sm.pdf

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Structural studies of N-terminal mutants of Connexin 26 and Connexin 32 using (1)H NMR spectroscopy.

Batir Y et al.

Archives of Biochemistry and Biophysics, 2016

Structural studies of N-terminal mutants of connexin 32 using (1)H NMR spectroscopy.

Kalmatsky BD et al.

Archives of Biochemistry and Biophysics, 2012

Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin 32.

Purnick PE et al.

Biophysical Journal, 2000

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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."