Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L143_L144del1
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GJB1

NM_000166.6:p.L143_L144del1

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

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational Neurology, 2019

Clinical and biophysical characterization of 19 GJB1 mutations.

Tsai PC et al.

Annals of Clinical and Translational Neurology, 2016

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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."