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	The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
	Colombo, Mara; Lòpez‐Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia
刊名	HUMAN MUTATION HUMAN MUTATION
	2018
卷号	Vol.39 No.5页码:729-741
关键词	BRCA2 digital PCR multifactorial likelihood analysis quantitative real‐time PCR spliceogenic variants
URL标识	查看原文
公开日期	[db:dc_date_available]
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/5464620
专题	湖南大学
作者单位	1.Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero 2.Cura a Carattere Scientifico) Istituto Nazionale dei Tumori , Milan, Italy 3.Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC , Madrid, Spain 4.Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 5.Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia 6.Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero 7.Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands 8.Department of Obstetrics and Gynecology, University Hospital, LMU Munich, Germany 9.Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV ‐ IRCCS, Padua, Italy 10.Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich‐Heine University, Duesseldorf, Germany
推荐引用方式 GB/T 7714	Colombo, Mara,Lòpez‐Perolio, Irene,Meeks, Huong D.,et al. The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity[J]. HUMAN MUTATION HUMAN MUTATION,2018,Vol.39 No.5:729-741.
APA	Colombo, Mara.,Lòpez‐Perolio, Irene.,Meeks, Huong D..,Caleca, Laura.,Parsons, Michael T..,...&Arndt, Volker.(2018).The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.HUMAN MUTATION HUMAN MUTATION,Vol.39 No.5,729-741.
MLA	Colombo, Mara,et al."The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity".HUMAN MUTATION HUMAN MUTATION Vol.39 No.5(2018):729-741.

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