Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.D134E
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MPZ

NM_000530.8:p.D134E

Associated Papers

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

Comella M et al.

Case Reports in Pediatrics, 2022

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

Taniguchi T et al.

Clinical Genetics, 2021

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.

Bai Y et al.

Annals of Clinical and Translational Neurology, 2018

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O et al.

Brain : a Journal of Neurology, 2015

Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.

Agrahari A et al.

Journal of Theoretical Biology, 2015

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Nelis E et al.

Journal of Medical Genetics, 1994

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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."