VWF c.5282T>A ;(p.M1761K)

Variant ID: 12-6125711-A-T

NM_000552.3(VWF):c.5282T>A;(p.M1761K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: M1761K
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
View BVdb publication page



Current issues in diagnosis and treatment of von Willebrand disease.

Research And Practice In Thrombosis And Haemostasis
Keesler, Daniel A DA; Flood, Veronica H VH
Publication Date: 2018-01

Variant appearance in text: VWF: Met1761Lys
PubMed Link: 30046704
Variant Present in the following documents:
  • Main text
  • RTH2-2-34.pdf
View BVdb publication page



[The research progress of Von Willebrand disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Yin, Jie J; Ruan, Changgeng C
Publication Date: 2015-07

Variant appearance in text: VWF: M1761K
PubMed Link: 26304092
Variant Present in the following documents:
  • cjh-36-07-616.pdf
View BVdb publication page