Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1282P
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VWF

NM_000552.5:p.L1282P

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Atiq F et al.

Blood Advances, 2022

35446929 (PubMed )
Supplement: advancesADV2021006757-suppl1.pdf

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Atiq F et al.

Hemasphere, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

34758185 (PubMed )
Supplement: JTH-20-316-s001.docx
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