Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M93K
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GJB1

NM_000166.6:p.M93K

Associated Papers

Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.

Yang Q et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G et al.

European Journal of Human Genetics : Ejhg, 2009

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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."