VWF c.4399C>T ;(p.P1467S)

Variant ID: 12-6128185-G-A

NM_000552.3(VWF):c.4399C>T;(p.P1467S)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Obstacles to Early Diagnosis and Treatment of Inherited von Willebrand Disease: Current Perspectives.

Journal Of Blood Medicine
Castaman, Giancarlo G; Linari, Silvia S
Publication Date: 2021

Variant appearance in text: VWF: P1467S
PubMed Link: 33790680
Variant Present in the following documents:
  • Main text
  • jbm-12-165.pdf
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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: P1467S
PubMed Link: 32573891
Variant Present in the following documents:
  • Main text
View BVdb publication page



New developments in von Willebrand disease.

British Journal Of Haematology
Fogarty, Helen H; Doherty, Dearbhla D; O'Donnell, James S JS
Publication Date: 2020-11

Variant appearance in text: VWF: P1467S
PubMed Link: 32394456
Variant Present in the following documents:
  • Main text
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Glycosylation sterically inhibits platelet adhesion to von Willebrand factor without altering intrinsic conformational dynamics.

Journal Of Thrombosis And Haemostasis : Jth
Tischer, Alexander A; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Auton, Matthew M
Publication Date: 2020-01

Variant appearance in text: VWF: P1467S
PubMed Link: 31479573
Variant Present in the following documents:
  • Main text
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The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Current Opinion In Hematology
Flood, Veronica H VH; Garcia, Jessica J; Haberichter, Sandra L SL
Publication Date: 2019-09

Variant appearance in text: VWF: P1467S
PubMed Link: 31261173
Variant Present in the following documents:
  • Main text
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An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS-VWF study.

Journal Of Thrombosis And Haemostasis : Jth
Szederjesi, A A; Baronciani, L L; Budde, U U; Castaman, G G; Lawrie, A S AS; Liu, Y Y; Montgomery, R R; Peyvandi, F F; Schneppenheim, R R; Várkonyi, A A; Patzke, J J; Bodó, I I
Publication Date: 2018-06-13

Variant appearance in text: VWF: P1467S
PubMed Link: 29897666
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: VWF: 4399C>T; P1467S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



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: P1467S
PubMed Link: 25858564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD.

Blood
Flood, Veronica H VH; Gill, Joan Cox JC; Morateck, Patricia A PA; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Hoffmann, Raymond G RG; Montgomery, Robert R RR
Publication Date: 2011-02-10

Variant appearance in text: VWF: P1467S
PubMed Link: 21148813
Variant Present in the following documents:
  • Main text
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Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

Blood
Flood, Veronica H VH; Gill, Joan Cox JC; Morateck, Patricia A PA; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Branchford, Brian R BR; Hoffmann, Raymond G RG; Abshire, Thomas C TC; Di Paola, Jorge A JA; Hoots, W Keith WK; Leissinger, Cindy C; Lusher, Jeanne M JM; Ragni, Margaret V MV; Shapiro, Amy D AD; Montgomery, Robert R RR
Publication Date: 2010-07-15

Variant appearance in text: VWF: P1467S
PubMed Link: 20231421
Variant Present in the following documents:
  • Main text
View BVdb publication page