Associated Papers
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
Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.
Sun D et al.
Frontiers in Oncology, 2022
36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1
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
Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.
Choi YJ et al.
Journal of Clinical Neurology (seoul, Korea), 2015
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