Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.Y136_W140del0
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PMP22

NM_000304.4:p.Y136_W140del0

Associated Papers

Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.

Vill K et al.

Neuropediatrics, 2015

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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."