Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.A76V
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MPZ

NM_000530.8:p.A76V

Associated Papers

Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.

Lee YC et al.

Journal of Neurology, 2010

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

Misu K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2000

[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].

Misu K et al.

Rinsho Shinkeigaku = Clinical Neurology, 2000

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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."