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Recommendations for Application of the Functional Evidence PS3/BS3 Criterion Using the ACMG/AMP Sequence Variant Interpretation Framework

Sarah E. Brnich,Ahmad N. Abou Tayoun,Fergus J. Couch,Garry R. Cutting,Marc S. Greenblatt,Christopher D. Heinen,Dona M. Kanavy,Xi Luo,Shannon M. McNulty,Lea M. Starita,Sean V. Tavtigian,Matt W. Wright,Steven M. Harrison,Leslie G. Biesecker,Jonathan S. Berg

Genome Medicine（2019）

引用 349|浏览82
关键词
Functional assays,Guidelines,Variant interpretation
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