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Paper Details

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants.
Blood
0
2023
BTPDs, DGGs, DNA variants, GWAS variants, MPL, PROC, PROS1, Rare, TUBB1, autosomal recessive platelet disorders, bleeding, bleeding, thrombotic, and platelet disorders, chronic amegakaryocytic thrombocytopenia, diagnostic-grade gene (DGG) variants, genetic diseases, hemostasis disorders, inherited hemostasis disorders, participants, patient, platelet, rare variants, thrombosis
Author NameAffiliation
Inigo Barrio-HernandezEuropean Bioinformatics Institute
Livia PerfettoEuropean Bioinformatics Institute
Livia PerfettoDepartment of Biology and Biotechnology "C.Darwin," Sapienza University of Rome
Livia PerfettoEuropean Bioinformatics Institute
Livia PerfettoDepartment of Biology and Biotechnology "C.Darwin," Sapienza University of Rome
Tiffany J CallahanColumbia University Irving Medical Center
Henning HermjakobEuropean Bioinformatics Institute
Henning HermjakobEuropean Bioinformatics Institute
Maria J MartinEuropean Bioinformatics Institute
Maria J MartinEuropean Bioinformatics Institute
Pablo PorrasEuropean Bioinformatics Institute
Pablo PorrasEuropean Bioinformatics Institute
Peter N Robinson
Peter N RobinsonInstitute for Systems Genomics, University of Connecticut
Peter N Robinson
Peter N RobinsonInstitute for Systems Genomics, University of Connecticut
Mattia FrontiniUniversity of Cambridge
Mattia FrontiniUniversity of Exeter Medical School
Mattia FrontiniBritish Heart Foundation, University of Cambridge
Mattia FrontiniNational Health Service Blood and Transplant
Pedro BeltraoInstitute of Molecular Systems Biology, ETH Zurich
Keith GomezRoyal Free London NHS Foundation Trust
Mike LaffanImperial College Healthcare NHS Trust
Mike LaffanImperial College London
Willem H OuwehandUniversity of Cambridge
Willem H OuwehandUniversity College London Hospitals NHS Trust
Willem H OuwehandNational Health Service Blood and Transplant
Willem H OuwehandUniversity of Cambridge
Willem H OuwehandNational Health Service Blood and Transplant
Willem H OuwehandUniversity College London Hospitals NHS Trust
Andrew D MumfordUniversity of Bristol
Andrew D MumfordUniversity of Bristol
Kathleen FresonCenter for Molecular and Vascular Biology
Kathleen FresonCenter for Molecular and Vascular Biology
Kate DownesUniversity of Cambridge
Kate DownesCambridge University Hospitals National Health Service Foundation Trust
Kate DownesNational Health Service Blood and Transplant
Karyn MegyUniversity of Cambridge
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