Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R183S
Back to variants list

GJB1

NM_000166.6:p.R183S

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Karakaya T et al.

Neurogenetics, 2022

Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Liu X et al.

Frontiers in Neurology, 2020

A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.

Zhao ZH et al.

Molecular Medicine Reports, 2019

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

Kyriakoudi S et al.

Human Molecular Genetics, 2017

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

Werheid F et al.

Brain and Behavior, 2016

Connexins, gap junctions and peripheral neuropathy.

Kleopa KA et al.

Neuroscience Letters, 2015

X-linked Charcot-Marie-Tooth disease with myokymia: report of a family.

Chakravarty A et al.

Neurology India, 2003

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA et al.

American Journal of Human Genetics, 2003

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."