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Article

An updated interactive database for 1692 genetic variants in coagulation factor IX provides detailed insights into hemophilia B.

Journal of thrombosis and haemostasis : JTH - 1 May 2023

Xu Ziqian, Spencer Holly J, Harris Victoria A, Perkins Stephen J

Abstract excerpt

BACKGROUND: Genetic variants in coagulation factor IX (FIX) are associated with hemophilia B, a rare bleeding disease. F9 variants are widespread across the gene and were summarized in our FIX variant database introduced in 2013. OBJECTIVES: We aimed to rationalize the molecular basis for 598 new F9 variants and 1645 new clinical cases, totaling 1692 F9 variants and 5358 related patient cases. METHODS: New F9...

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Share to Blood Coagulation and Thrombosis Mechanisms
Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 36787808
DOI: 10.1016/j.jtha.2023.02.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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