Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S26_Q27Splc
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PMP22

NM_000304.4:p.S26_Q27Splc

Associated Papers

Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.

Kawamoto N et al.

Journal of the Peripheral Nervous System : Jpns, 2023

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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."