Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S292Splc
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VWF

NM_000552.5:p.S292Splc

Associated Papers

Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Vangenechten I et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32864553 (PubMed )
Supplement: RTH2-4-1024-s004.xlsx › Blad2

Investigation of ITGB2 gene in 12 new cases of leukocyte adhesion deficiency-type I revealed four novel mutations from Iran.

Taghizade Mortezaee F et al.

Archives of Iranian Medicine, 2015

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

Parvaneh N et al.

Journal of Clinical Immunology, 2010

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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."