Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.W101*
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MPZ

NM_000530.8:p.W101*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

Gemignani F et al.

International Journal of Molecular Sciences, 2024

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I et al.

Journal of Neurology, 2019

A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.

Caress JB et al.

Muscle & Nerve, 2019

Systematic review and meta-analysis of genetic risk factors for neuropathic pain.

Veluchamy A et al.

Pain, 2018

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Berciano J et al.

Journal of Neurology, 2017

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

Doppler K et al.

Muscle & Nerve, 2017

SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity.

Li QS et al.

The Clinical Journal of Pain, 2015

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Ramirez JD et al.

Pain, 2012

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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."