Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.E123*
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PMP22

NM_000304.4:p.E123*

Associated Papers

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ

Acta Neurologica Scandinavica. Supplementum, 2012

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF et al.

Annals of Neurology, 2002

[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].

Reggio A et al.

Acta Neurologica, 1981

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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."