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MAT2A mutations predispose individuals to thoracic aortic aneurysms.Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31.
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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20.
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Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.Arterioscler Thromb Vasc Biol. 2017 Jan;37(1):26-34. doi: 10.1161/ATVBAHA.116.303229. Epub 2016 Nov 22.
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Three-dimensional thoracic aorta principal strain analysis from routine ECG-gated computerized tomography: feasibility in patients undergoing transcatheter aortic valve replacement.BMC Cardiovasc Disord. 2018 May 2;18(1):76. doi: 10.1186/s12872-018-0818-0.
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FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8.
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Genetic approaches to identify pathological limitations in aortic smooth muscle contraction.PLoS One. 2018 Mar 1;13(3):e0193769. doi: 10.1371/journal.pone.0193769. eCollection 2018.
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