Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.T118del1
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PMP22

NM_000304.4:p.T118del1

Associated Papers

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.

Kabzińska D et al.

Journal of Applied Genetics, 2010

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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."