Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S78_I79Splc
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MPZ

NM_000530.8:p.S78_I79Splc

Associated Papers

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.

Maino A et al.

Journal of the Peripheral Nervous System : Jpns, 2025

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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."