Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.V102fs
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MPZ

NM_000530.8:p.V102fs

Associated Papers

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

Corrado L et al.

Neuromuscular Disorders : Nmd, 2016

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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."