Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D61E
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MPZ

NM_000530.8:p.D61E

Associated Papers

Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.

Matsuyama W et al.

Acta Neuropathologica, 2002

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

Lewis RA et al.

Muscle & Nerve, 2000

Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.

Ohnishi A et al.

Journal of the Neurological Sciences, 1999

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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."