Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.M69R
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PMP22

NM_000304.4:p.M69R

Associated Papers

The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.

Mittendorf KF et al.

Biochemistry, 2014

25243937 (PubMed )
Supplement: bi500809t_si_001.pdf

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

Variable phenotypes are associated with PMP22 missense mutations.

Russo M et al.

Neuromuscular Disorders : Nmd, 2011

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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."