Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates fbln2, pdgfd, and rare de novo variants in pah

HIGHLIGHTS

• who: Na Zhu from the Department of Pediatrics, Columbia University Irving Medical Center, StNicholas Room, New York, NY, USA have published the paper: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH, in the Journal: (JOURNAL)
• what: The increased power of the combined cohort was a 2-fold increase in the number of IPAH cases, and the authors focused the association analyses on this PAH subclass. The authors provide additional statistical evidence based on a burden test including both LGD and . . .
  

   

  

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