Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D104fs
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MPZ

NM_000530.8:p.D104fs

Associated Papers

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.

Laurini C et al.

Neurology. Genetics, 2025

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Geroldi A et al.

Journal of Medical Genetics, 2024

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Taniguchi T et al.

Clinical Genetics, 2021

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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."