Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M194V
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GJB1

NM_000166.6:p.M194V

Associated Papers

Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.

Zhan F et al.

Journal of Clinical Neurology (seoul, Korea), 2024

38179633 (PubMed )
Supplement: jcn-20-59-s001.pdf

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Drew AP et al.

Molecular Genetics & Genomic Medicine, 2015

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.

Silander K et al.

Human Genetics, 1997

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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."