Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I127L
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GJB1

NM_000166.6:p.I127L

Associated Papers

Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.

Bekircan-Kurt CE et al.

Bmc Neurology, 2025

High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.

Başdemirci M et al.

Molecular Syndromology, 2025

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1

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

Karakaya T et al.

Neurogenetics, 2022

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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."