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Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.
Int J Cardiol. 2009 Jan 24;131(3):410-2. doi: 10.1016/j.ijcard.2007.07.108. Epub 2007 Nov 14.
Int J Cardiol. 2009.
PMID: 18006163
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F.
Olivotto I, et al.
Mayo Clin Proc. 2008 Jun;83(6):630-8. doi: 10.4065/83.6.630.
Mayo Clin Proc. 2008.
PMID: 18533079
Clinical Trial.
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A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V, Janin A, Millat G.
Chanavat V, et al.
Clin Chim Acta. 2016 Jan 30;453:80-5. doi: 10.1016/j.cca.2015.12.011. Epub 2015 Dec 10.
Clin Chim Acta. 2016.
PMID: 26688388
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.
Walsh R, et al.
Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
Genet Med. 2017.
PMID: 27532257
Free PMC article.
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Genotype-specific pathogenic effects in human dilated cardiomyopathy.
Bollen IAE, Schuldt M, Harakalova M, Vink A, Asselbergs FW, Pinto JR, Krüger M, Kuster DWD, van der Velden J.
Bollen IAE, et al.
J Physiol. 2017 Jul 15;595(14):4677-4693. doi: 10.1113/JP274145. Epub 2017 Jun 1.
J Physiol. 2017.
PMID: 28436080
Free PMC article.
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Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Hu X, Li N, Xu Y, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, Wang X, Wang J, Shen Y.
Hu X, et al.
Genet Med. 2018 Sep;20(9):1045-1053. doi: 10.1038/gim.2017.195. Epub 2017 Nov 2.
Genet Med. 2018.
PMID: 29095814
Free article.
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