Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.A14T
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PMP22

NM_000304.4:p.A14T

Associated Papers

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.

Numakura C et al.

Human Mutation, 2002

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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."