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Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.

Guillaume CoganKensuke DaidaKimberley J BillingsleyChristelle TessonSylvie ForlaniLudmila JorneaLionel ArnaudLaurene TissierEric Le GuernAndrew B SingletonMélanie FerrienHélène Gervais BernardSuzanne LesageCornelis BlauwendraatAlexis Brice
Published in: medRxiv : the preprint server for health sciences (2024)
PD individuals.
Keyphrases
  • early onset
  • late onset
  • copy number
  • single cell
  • single molecule