Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L76P
Back to variants list

GJB1

NM_000166.6:p.L76P

Associated Papers

Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.

Zhong J et al.

Frontiers in Genetics, 2026

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

Yield of next-generation neuropathy gene panels in axonal neuropathies.

Lee DC et al.

Journal of the Peripheral Nervous System : Jpns, 2019

X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.

Hardy DI et al.

Neuropediatrics, 2019

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."