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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.
Genet Med. 2019.
PMID: 29925964
Free PMC article.
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".
Kwartler CS, Gong L, Chen J, Wang S, Kulmacz R, Duan XY, Janda A, Huang J, Kamm KE, Stull JT, Guo D, Milewicz DM.
Kwartler CS, et al.
Am J Hum Genet. 2018 Jul 5;103(1):138-143. doi: 10.1016/j.ajhg.2018.05.012. Epub 2018 Jun 28.
Am J Hum Genet. 2018.
PMID: 29961567
Free PMC article.
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Reversal of Aortic Enlargement Induced by Increased Biomechanical Forces Requires AT1R Inhibition in Conjunction With AT2R Activation.
Zhou Z, Peters AM, Wang S, Janda A, Chen J, Zhou P, Arthur E, Kwartler CS, Milewicz DM.
Zhou Z, et al.
Arterioscler Thromb Vasc Biol. 2019 Mar;39(3):459-466. doi: 10.1161/ATVBAHA.118.312158.
Arterioscler Thromb Vasc Biol. 2019.
PMID: 30602301
Free PMC article.
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