The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Stefanucci, L., Collins, J., Sims, M. C., Barrio-Hernandez, I., Sun, L., Burren, O. S., Perfetto, L., Bender, I., Callahan, T. J., Fleming, K., Guerrero, J. A., Hermjakob, H., Martin, M. J., Stephenson, J., Paneerselvam, K., Petrovski, S., Porras, P., Robinson, P. N., Wang, Q., … Vuckovic, D. (2023). The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants. Blood, 142(24), 2055–2068. https://doi.org/10.1182/blood.2023020118
Authors:
Luca Stefanucci
Janine Collins
Matthew C. Sims
Inigo Barrio‐Hernandez
Luanluan Sun
Oliver Burren
Livia Perfetto
Isobel Bender
PheKnowLator Ecosystem Developers
Kathryn Fleming
José A. Guerrero
Henning Hermjakob
María Martín
James Stephenson
Kalpana Panneerselvam
Slavé Petrovski
Pablo Porras
Peter N. Robinson
Quanli Wang
Xavier Watkins
Mattia Frontini
Roman A. Laskowski
Pedro Beltrão
Emanuele Di Angelantonio
Keith Gomez
Michael Laffan
Willem H. Ouwehand
Andrew Mumford
Kathleen Freson
Keren Carss
Kate Downes
Nicholas Gleadall
Karyn Mégy
Elspeth A. Bruford
Dragana Vuckovic
Affiliated Authors:
PheKnowLator Ecosystem Developers
Columbia Affiliation:
Subjects:
Genome-Wide Association Study (MeSH)
Thrombosis (MeSH)
Genomic Studies and Association Analyses (OpenAlex Topic)
Platelet Disorders and Thrombosis Mechanisms (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1182/blood.2023020118
PMID:
37647632
DOI:
10.1182/blood.2023020118
Journal:
Blood
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: