Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.G137V
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MPZ

NM_000530.8:p.G137V

Associated Papers

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

Laurini C et al.

Neurology. Genetics, 2025

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

Taniguchi T et al.

Clinical Genetics, 2021

33179255 (PubMed )
Supplement: CGE-99-359-s001.docx

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Dong YN et al.

Human Molecular Genetics, 2019

Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.

Prada V et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2015

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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."