Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.E682*
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PRX

NM_181882.3:p.E682*

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

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

Four novel cases of periaxin-related neuropathy and review of the literature.

Marchesi C et al.

Neurology, 2010

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