F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project

Research and Practice in Thrombosis and Haemostasis(2023)

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摘要
•Selective reporting of F8/F9 variants may influence the distribution of variants in databases.•We compared the spectrum of variants in a population with databases at risk for reporting bias.•We showed the full spectrum of variants in the PedNet cohort and differences with other databases.•This full spectrum of variants could serve as a population-based reference for studies.
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关键词
factor VIII,factor IX,hemophilia A,hemophilia B,genetic databases,population
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