文献
J-GLOBAL ID:202002220243734989
整理番号:20A1016563
AcMg/AMP配列変異解釈フレームワークを用いた機能的証拠PS3/BS3基準の適用に対する推奨【JST・京大機械翻訳】
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
著者 (16件):
Brnich Sarah E.
(Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, USA)
,
Tayoun Ahmad N. Abou
(Genomics Department, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates)
,
Couch Fergus J.
(Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, USA)
,
Cutting Garry R.
(Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, USA)
,
Greenblatt Marc S.
(Department of Medicine and University of Vermont Cancer Center, Larner College of Medicine, University of Vermont, Burlington, USA)
,
Heinen Christopher D.
(Center for Molecular Oncology, UConn Health, Farmington, USA)
,
Kanavy Dona M.
(Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, USA)
,
Luo Xi
(Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, USA)
,
McNulty Shannon M.
(Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, USA)
,
Starita Lea M.
(Department of Genome Sciences, University of Washington, Seattle, USA)
,
Starita Lea M.
(Brotman Baty Institute for Precision Medicine, Seattle, USA)
,
Tavtigian Sean V.
(Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, USA)
,
Wright Matt W.
(Stanford University School of Medicine, Stanford, USA)
,
Harrison Steven M.
(Broad Institute of MIT and Harvard, Cambridge, USA)
,
Biesecker Leslie G.
(Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, USA)
,
Berg Jonathan S.
(Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, USA)
資料名:
Genome Medicine (Web)
(Genome Medicine (Web))
巻:
12
号:
1
ページ:
1-12
発行年:
2020年
JST資料番号:
U7320A
ISSN:
1756-994X
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
イギリス (GBR)
言語:
英語 (EN)