Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.W124*
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PMP22

NM_000304.4:p.W124*

Associated Papers

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F et al.

Brain : a Journal of Neurology, 2011

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).

Jedrzejowska M et al.

Neuromuscular Disorders : Nmd, 2008

Co-segregation of LMNA and PMP22 gene mutations in the same family.

Pegoraro E et al.

Neuromuscular Disorders : Nmd, 2005

[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

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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."