Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R75delFs
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GJB1

NM_000166.6:p.R75delFs

Associated Papers

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H et al.

Biomed Research International, 2014

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ

Acta Neurologica Scandinavica. Supplementum, 2012

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Braathen GJ et al.

Bmc Neurology, 2007

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."