新生儿筛查：是否进行全外显子测序，这是个问题。 - Suppr

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超能文献

Newborn screening: To WES or not to WES, that is the question.

作者信息

Morava Eva, Baumgartner Matthias, Patterson Marc, Peters Verena, Rahman Shamima

机构信息

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

出版信息

J Inherit Metab Dis. 2020 Sep;43(5):904-905. doi: 10.1002/jimd.12303. Epub 2020 Sep 2.

DOI:10.1002/jimd.12303

PMID:32844432

Abstract

摘要

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