VWF c.3971G>C ;(p.G1324A)

Variant ID: 12-6128613-C-G

NM_000552.3(VWF):c.3971G>C;(p.G1324A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Journal Of Thrombosis And Haemostasis : Jth
Szederjesi, Attila A; Baronciani, Luciano L; Budde, Ulrich U; Castaman, Giancarlo G; Colpani, Paola P; Lawrie, Andrew S AS; Liu, Yuan Y; Montgomery, Robert R; Peyvandi, Flora F; Schneppenheim, Reinhard R; Patzke, Jürgen J; Bodó, Imre I
Publication Date: 2020-10

Variant appearance in text: VWF: G1324A
PubMed Link: 32573891
Variant Present in the following documents:
  • Main text
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The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal Of Molecular Biology
Machha, Venkata R VR; Tischer, Alexander A; Moon-Tasson, Laurie L; Auton, Matthew M
Publication Date: 2017-01-06

Variant appearance in text: VWF: G1324A
PubMed Link: 27889474
Variant Present in the following documents:
  • Main text
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Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor.

The Journal Of Biological Chemistry
Tischer, Alexander A; Campbell, James C JC; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Sankaran, Banumathi B; Kim, Choel C; Auton, Matthew M
Publication Date: 2016-02-19

Variant appearance in text: VWF: G1324A
PubMed Link: 26677223
Variant Present in the following documents:
  • Main text
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Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH.

Journal Of Thrombosis And Haemostasis : Jth
Bodó, I I; Eikenboom, J J; Montgomery, R R; Patzke, J J; Schneppenheim, R R; Di Paola, J J; ,
Publication Date: 2015-07

Variant appearance in text: VWF: G1324A
PubMed Link: 25858564
Variant Present in the following documents:
  • Main text
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Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06

Variant appearance in text: VWF: G1324A
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page