Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P172R
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GJB1

NM_000166.6:p.P172R

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

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.

Wang HL et al.

Neurobiology of Disease, 2004

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.

Martin PE et al.

Journal of Neurochemistry, 2000

Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.

Nicholson SM et al.

Annals of the New York Academy of Sciences, 1999

Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

Yoshimura T et al.

Journal of Neuroscience Research, 1998

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