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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

作者信息

Adams David R, Eng Christine M

机构信息

From the Office of the Clinical Director, National Human Genome Research Institute, and the Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD (D.R.A.); and the Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics - both in Houston (C.M.E.).

出版信息

N Engl J Med. 2018 Oct 4;379(14):1353-1362. doi: 10.1056/NEJMra1711801.

DOI:10.1056/NEJMra1711801
PMID:30281996
Abstract
摘要

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