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      Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

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          Abstract

          Hypertrophic cardiomyopathy (HCM) is caused primarily by pathogenic variants in genes encoding sarcomere proteins. We report genetic testing results for HCM in 2,912 unrelated individuals with nonsyndromic presentations from a broad referral population over 10 years.

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          Author and article information

          Journal
          Genet. Med.
          Genetics in medicine : official journal of the American College of Medical Genetics
          1530-0366
          1098-3600
          Nov 2015
          : 17
          : 11
          Affiliations
          [1 ] Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Boston, Massachusetts, USA.
          [2 ] Department of Pediatrics, Qassim University, Buraydah, Saudi Arabia.
          [3 ] Department of Pathology, Brigham and Women's Hospital and Massachusetts General Hospital, Boston, Massachusetts, USA.
          [4 ] Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.
          [5 ] Howard Hughes Medical Institute, Boston, Massachusetts, USA.
          [6 ] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
          [7 ] Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.
          Article
          gim2014205
          10.1038/gim.2014.205
          25611685

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