Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.W61*
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PMP22

NM_000304.4:p.W61*

Associated Papers

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].

Pou Serradell A et al.

Revue Neurologique, 2002

A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Meuleman J et al.

Neuromuscular Disorders : Nmd, 2001

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion.

Jouaud M et al.

Neuromuscular Disorders : Nmd, 0

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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."