Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E109*
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GJB1

NM_000166.6:p.E109*

Associated Papers

[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient].

Takemaru M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2018

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y et al.

Journal of Child 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."