Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E102*
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GJB1

NM_000166.6:p.E102*

Associated Papers

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX et al.

Clinical Genetics, 2019

Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.

Wang R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.

Latour P et al.

Neurogenetics, 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."