Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L143del1
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GJB1

NM_000166.6:p.L143del1

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

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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."