Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.R67C
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MPZ

NM_000530.8:p.R67C

Associated Papers

Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.

Young T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

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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."