Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.L309L
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PRX

NM_181882.3:p.L309L

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.

Lin Z et al.

Journal of Neurology, 2024

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

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Abe A et al.

Journal of Human Genetics, 2011

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