Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.P214_R215insFs
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PRX

NM_181882.3:p.P214_R215insFs

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

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R et al.

Neurology, 2013

[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

Renouil M et al.

Revue Neurologique, 0

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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."