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T1  - Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients 
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UR  - http://hdl.handle.net/10138/329626 
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A1  - Hathaway, Julie; Heliö, Krista; Saarinen, Inka; Tallila, Jonna; Seppala, Eija H.; Tuupanen, Sari; Turpeinen, Hannu; Kangas-Kontio, Tiia; Schleit, Jennifer; Tommiska, Johanna; Kytola, Ville; Valori, Miko; Muona, Mikko; Sistonen, Johanna; Gentile, Massimiliano; Salmenpera, Pertteli; Myllykangas, Samuel; Paananen, Jussi; Alastalo, Tero-Pekka; Helio, Tiina; Koskenvuo, Juha 
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PB  -  
Y1  - 2021 
LA  - eng 
AB  - Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. Methods A ... 
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KW  - Hypertrophic cardiomyopathy; Genetic testing; Next generation sequencing; Diagnosis; Counseling; 3121 General medicine, internal medicine and other clinical medicine 
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