Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.S72P
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PMP22

NM_000304.4:p.S72P

Associated Papers

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.

Agrahari AK et al.

Journal of Cellular Biochemistry, 2017

The PMP22 gene and its related diseases.

Li J et al.

Molecular Neurobiology, 2013

Analysis of human neurological disorders using mutagenesis in the mouse.

Oliver PL et al.

Clinical Science (london, England : 1979), 2005

Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.

Marques W et al.

Acta Neurologica Scandinavica, 2004

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.

Plante-Bordeneuve V et al.

Muscle & Nerve, 2002

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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."