Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R15L
Back to variants list

GJB1

NM_000166.6:p.R15L

Associated Papers

Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.

Tadenev ALD et al.

Journal of the Peripheral Nervous System : Jpns, 2023

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

Liu X et al.

Frontiers in Neurology, 2020

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Hu G et al.

Clinical Neurology and Neurosurgery, 2019

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Lu YY et al.

Chinese Medical Journal, 2017

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R et al.

Neurology, 2013

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."