VWF c.2573G>T ;(p.C858F)

Variant ID: 12-6143966-C-A

NM_000552.3(VWF):c.2573G>T;(p.C858F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.

Blood Advances
Butera, Diego D; Wang, Haoqing Jerry HJ; Woon, Heng-Giap HG; Zhao, Yunduo Charles YC; Ju, Lining Arnold Arnold LAA; Hogg, Philip P
Publication Date: 2022-10-14

Variant appearance in text: VWF: C858F
PubMed Link: 36240294
Variant Present in the following documents:
  • Main text
  • BLOODA_ADV-2022-008650-mmc1.pdf
  • main.pdf
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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances
Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA
Publication Date: 2022-06-28

Variant appearance in text: VWF: C858F
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
View BVdb publication page



Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

Annals Of Laboratory Medicine
Kim, Hee Jung HJ; Kim, Soon Ki SK; Yoo, Ki Young KY; Lee, Ki O KO; Yun, Jae Won JW; Kim, Sun Hee SH; Kim, Hee Jin HJ; Park, Sang Kyu SK
Publication Date: 2019-11

Variant appearance in text: VWF: C858F
PubMed Link: 31240882
Variant Present in the following documents:
  • Main text
  • alm-39-545.pdf
View BVdb publication page



Solution structure of the major factor VIII binding region on von Willebrand factor.

Blood
Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF
Publication Date: 2014-06-26

Variant appearance in text: VWF: C858F
PubMed Link: 24700780
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Haematologica
Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G
Publication Date: 2013-01

Variant appearance in text: VWF: C858F
PubMed Link: 22875612
Variant Present in the following documents:
  • Main text
View BVdb publication page