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Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Hayashi K, Teramoto R, Nomura A, Asano Y, Beerens M, Kurata Y, Kobayashi I, Fujino N, Furusho H, Sakata K, Onoue K, Chiang DY, Kiviniemi TO, Buys E, Sips P, Burch ML, Zhao Y, Kelly AE, Namura M, Kita Y, Tsuchiya T, Kaku B, Oe K, Takeda Y, Konno T, Inoue M, Fujita T, Kato T, Funada A, Tada H, Hodatsu A, Nakanishi C, Sakamoto Y, Tsuda T, Nagata Y, Tanaka Y, Okada H, Usuda K, Cui S, Saito Y, MacRae CA, Takashima S, Yamagishi M, Kawashiri MA, Takamura M. Hayashi K, et al. Cardiovasc Res. 2020 Nov 1;116(13):2116-2130. doi: 10.1093/cvr/cvaa010. Cardiovasc Res. 2020. PMID: 31977013 Free PMC article.
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
Konno T, Shimizu M, Ino H, Matsuyama T, Yamaguchi M, Terai H, Hayashi K, Mabuchi T, Kiyama M, Sakata K, Hayashi T, Inoue M, Kaneda T, Mabuchi H. Konno T, et al. Among authors: hayashi k, hayashi t. J Am Coll Cardiol. 2003 Mar 5;41(5):781-6. doi: 10.1016/s0735-1097(02)02957-1. J Am Coll Cardiol. 2003. PMID: 12628722 Free article.
8,733 results