Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.D651N
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PRX

NM_181882.3:p.D651N

Associated Papers

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

Ma X et al.

Frontiers in Neurology, 2023

37470010 (PubMed )
Supplement: Table_1.docx

Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F.

Maeda K et al.

Eneurologicalsci, 2021

Neuropathology of the spinal nerve roots, spinal cord, and brain in the first autopsied case of Charcot-Marie-Tooth disease 4F with a D651N mutation in the periaxin gene.

Shintaku M et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021

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

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

Tokunaga S et al.

Neurogenetics, 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."