Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.R15delins
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GJB1

NM_000166.6:p.R15delins

Associated Papers

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R et al.

Neurology, 2013

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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."