Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.R953*
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PRX

NM_181882.3:p.R953*

Associated Papers

Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth Type 4F.

Ferrara JM et al.

The Neurohospitalist, 2023

Arg953* mutation in Periaxin causes CMT4F without nerve hypertrophy on ultrasound imaging: A case report and review of the literature.

Castoro R et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2023

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.

Ma X et al.

Frontiers in Neurology, 2023

Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.

Chen YH et al.

The Journal of International Medical Research, 2020

Schwann Cell O-GlcNAc Glycosylation Is Required for Myelin Maintenance and Axon Integrity.

Kim S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

Tokunaga S et al.

Neurogenetics, 2012

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H et al.

Annals of Neurology, 2002

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel CF et al.

American Journal of Human Genetics, 2001

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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."