Associated Papers
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cousin MA et al.
Cold Spring Harbor Molecular Case Studies, 2017
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Zimmermann MT et al.
Plos One, 2017
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.
Pezzini A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
Select a paper to view details