Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S1731T
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F8

NM_000132.4:p.S1731T

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

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

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

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Pérez-Rodríguez A et al.

Plos One, 2018

Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Wang QY et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."