Genetic study of early onset parkinson’s disease in cyprus

HIGHLIGHTS

  • who: Rana Abu Manneh and collaborators from the Department of Hygiene and Epidemiology, Medical School, University of Ioannina, Ioannina, Greece have published the article: Genetic Study of Early Onset Parkinsonu2019s Disease in Cyprus, in the Journal: (JOURNAL) of 18/06/2020
  • what: To date the pathogenic variants identified in this study have explained the PD phenotype for 18.8% of the EOPD cases. In this study, 2 variants with conflicting interpretations of pathogenicity in ClinVar were identified; c.1372A > C (p.Met458Leu) in PRKN, and c.416G > A (p.Arg139His) in PLA2G6. The authors report . . .

     

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