Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.S78W
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MPZ

NM_000530.8:p.S78W

Associated Papers

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

Yalcouyé A et al.

Journal of the Peripheral Nervous System : Jpns, 2022

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1

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

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

Clinical and genetic analysis of CMT1B in a Nigerian family.

Kakar R et al.

Muscle & Nerve, 2003

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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."