Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.I214N
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GJB1

NM_000166.6:p.I214N

Associated Papers

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Hong YB et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.

Lee M et al.

Annals of Neurology, 2017

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

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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."