文献
J-GLOBAL ID:201802284327310651
整理番号:18A1910723
機能PVS1 AcMg/AMP変異基準の消失を解釈するための推奨【JST・京大機械翻訳】
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
著者 (11件):
Abou Tayoun Ahmad N.
(The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania)
,
Abou Tayoun Ahmad N.
(The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania)
,
Pesaran Tina
(Ambry Genetics, Aliso Viejo, California)
,
DiStefano Marina T.
(Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts)
,
Oza Andrea
(Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts)
,
Rehm Heidi L.
(Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts)
,
Rehm Heidi L.
(Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts)
,
Rehm Heidi L.
(The Broad Institute of MIT and Harvard, Cambridge, Massachusetts)
,
Biesecker Leslie G.
(Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland)
,
Harrison Steven M.
(Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts)
,
ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)
資料名:
Human Mutation
(Human Mutation)
巻:
39
号:
11
ページ:
1517-1524
発行年:
2018年
JST資料番号:
W2601A
ISSN:
1059-7794
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)