Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S26_Q27Splc
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PMP22

NM_000304.4:p.S26_Q27Splc

Associated Papers

Ultrasonography Findings in Hereditary Neuropathy with Liability to Pressure Palsies Due to Single-Nucleotide Substitution.

Kim YK et al.

Journal of Clinical Neurology (seoul, Korea), 2020

Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.

Karadima G et al.

Journal of the Peripheral Nervous System : Jpns, 2015

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Koutsis G et al.

Brain : a Journal of Neurology, 2012

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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."