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List of works by National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

scientific article

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

scientific article published on 26 September 2013

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

scientific article published on August 2013

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