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Article

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Haematologica - 1 Feb 2026

Seidizadeh Omid, Ciavarella Alessandro, Baronciani Luciano, Colpani Paola, Cairo Andrea, Siboni Simona Maria, Peyvandi Flora

Abstract excerpt

The clinical and genetic features of type 2 von Willebrand disease (VWD) have been described, but genotype-phenotype correlations in large cohorts remain incompletely understood. We investigated the relationship between von Willebrand factor gene (VWF) variants and bleeding severity in a large, well-characterized cohort of type 2 VWD patients, aiming to identify genetic determinants underlying clinical...

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Identifiers

PMID: 40820832
DOI: 10.3324/haematol.2025.288342
PMCID: PMC12862308

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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