Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.V525A
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PRX

NM_181882.3:p.V525A

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

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Schabhüttl M et al.

Journal of Neurology, 2014

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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."