Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C1272F
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VWF

NM_000552.5:p.C1272F

Associated Papers

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.

Woods AI et al.

Seminars in Thrombosis and Hemostasis, 2021

Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping.

Tischer A et al.

Journal of Molecular Biology, 2017

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.

Fidalgo T et al.

Thrombosis and Haemostasis, 2016

Role of von Willebrand Factor--A1 Domain Variants P1266L, H1268D, C1272R, and C1272F in VWD: A Molecular Modeling and Simulation Analysis Approach.

Doss CG et al.

Advances in Protein Chemistry and Structural Biology, 2016

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

A molten globule intermediate of the von Willebrand factor A1 domain firmly tethers platelets under shear flow.

Tischer A et al.

Proteins, 2014

C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

Woods AI et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

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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."