The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations - Pawlikowska, L; Nelson, J; Guo, D E; Brain Vascular Malformation Consortium HHT Investigator Group (Am J Med Genet A, 2015)