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Article

An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.

Journal of thrombosis and haemostasis : JTH - 1 Oct 2024

Sacco Monica, Testa Maria Francesca, Ferretti Antonietta, Basso Maria, Lancellotti Stefano, Tardugno Maira, Di Gennaro Leonardo, Concolino Paola, Minucci Angelo, Spoliti Claudia, Branchini Alessio, De Cristofaro Raimondo

Abstract excerpt

BACKGROUND: Dissection of genotype-phenotype relationships in hemophilia B (HB) is particularly relevant for challenging (mild HB) or for HB-associated but unclassified factor (F)IX missense variants. OBJECTIVE: To contribute elements to interpret unclassified HB-associated FIX missense variants by a multiple-level approach upon identification of a reported, but uncharacterized, FIX missense variant associated...

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

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Source

Identifiers

PMID: 39019441
DOI: 10.1016/j.jtha.2024.07.008

Genes

F9

Variants

Provenance

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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