Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R75L
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GJB1

NM_000166.6:p.R75L

Associated Papers

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

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

Da Y et al.

Neurological Research, 2016

Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.

Abrams CK et al.

The Journal of Biological Chemistry, 2013

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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."