换一批Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
第一作者：
Alice Garrett
作者：
Alice Garrett [1]
;
Chey Loveday [2]
;
Laura King [3]
;
Samantha Butler [4]
;
Rachel Robinson [5]
;
Carrie Horton [6]
;
Amal Yussuf [7]
;
Subin Choi [8]
;
Beth Torr [9]
;
Miranda Durkie [10]
;
George J Burghel [11]
;
James Drummond [12]
;
Ian Berry [13]
;
Andrew Wallace [14]
;
Alison Callaway [15]
;
Diana Eccles [16]
;
Marc Tischkowitz [17]
;
Katrina Tatton-Brown ;
Katie Snape ;
Terri McVeigh ;
Louise Izatt ;
Emma R Woodward ;
Nelly Burnichon ;
Anne-Paule Gimenez-Roqueplo ;
Francesco Mazzarotto ;
Nicola Whiffin ;
James Ware ;
Helen Hanson ;
Tina Pesaran ;
Holly LaDuca ;
Alexandre Buffet ;
Eamonn R Maher ;
Clare Turnbull
作者单位：
North East and Yorkshire Genomic Laboratory Hub, Central Lab, The Leeds Teaching Hospitals NHS Trust
[1]
Ambry Genetics
[2]
Division of Genetics and Epidemiology, The Institute of Cancer Research
[3]
North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust
[4]
The Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester
[5]
East Genomic Laboratory Hub, Cambridge University Hospitals Genomic Laboratory, Cambridge
[6]
Central and South Genomics Laboratory Hub, Wessex Regional Genetics Laboratory, Salisbury Hospital
[7]
Cancer Sciences, Faculty of Medicine, University of Southampton
[8]
Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS
[9]
St. George's University
[10]
Cancer Genetics Unit, Royal Marsden NHS Foundation Trust
[11]
Clinical Genetics
[12]
Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC),
[13]
University of Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer
[14]
National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College
[15]
The Wellcome Centre for Human Genetics, University of Oxford
[16]
Central and South Genomic Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust
[17]
发布时间
2022-04-13
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