Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.F83insFs
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PMP22

NM_000304.4:p.F83insFs

Associated Papers

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.

Vital A et al.

Journal of the Peripheral Nervous System : Jpns, 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."