Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.R98P
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MPZ

NM_000530.8:p.R98P

Associated Papers

Computational prioritization of deleterious human myelin protein zero gene mutations reveals structural disruption and potential myelin dysfunction through dynamic simulations and stability analysis.

Alhassan HH et al.

Journal of Biomolecular Structure & Dynamics, 2025

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14

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

Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.

Donaghy M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2000

Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.

Ohnishi A et al.

Journal of the Neurological Sciences, 1999

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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."