Bayesian inference associates rare kdr variants with specific phenotypes in pulmonary arterial hypertension

HIGHLIGHTS

• who: Bayesian Inference s Rare et al. from the Additional KDR Cases in US PAH Cohorts To seek further evidence for KDR as a new candidate gene for PAH, we analyzed subjects recruited to the US PAH Biobank, and the Columbia University Irving Medical Center, to identify additional patients carrying predicted pathogenic rare variantsFour additional individuals harboring rare high impact KDR variants were identified. These comprised, nonsense variants, one in exon , (c. C>A,Ter) and one in exon , (c. C>T,Ter) and , splice donor variants, one in intron , of , (c.161+ G>T) and one . . .
  

   

  

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