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A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.

作者信息

Niehaus Annie, Azzariti Danielle R, Harrison Steven M, DiStefano Marina T, Hemphill Sarah E, Senol-Cosar Ozlem, Rehm Heidi L

机构信息

College of Medicine, Medical University of South Carolina, Charleston, SC, USA.

Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA.

出版信息

Genet Med. 2019 Aug;21(8):1699-1701. doi: 10.1038/s41436-018-0432-7. Epub 2019 Jan 23.

DOI:10.1038/s41436-018-0432-7
PMID:30670879
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7233466/
Abstract
摘要

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