Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L16R
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PMP22

NM_000304.4:p.L16R

Associated Papers

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Jung NY et al.

Genes, 2022

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Nam SH et al.

Molecules and Cells, 2016

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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."