Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.L19P
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PMP22

NM_000304.4:p.L19P

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

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

Schlebach JP et al.

The Journal of Membrane Biology, 2015

Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.

Shames I et al.

Journal of Neuropathology and Experimental Neurology, 2003

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."