VWF c.4645G>A ;(p.E1549K)

Variant ID: 12-6127939-C-T

NM_000552.3(VWF):c.4645G>A;(p.E1549K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Croatian Medical Journal
Lapić, Ivana I; Radić Antolic, Margareta M; Boban, Ana A; Coen Herak, Desiree D; Rogić, Dunja D; Zadro, Renata R
Publication Date: 2022-04-30

Variant appearance in text: VWF: 4645G>A; Glu1549Lys
PubMed Link: 35505650
Variant Present in the following documents:
  • Main text
  • CroatMedJ_63_0166.pdf
View BVdb publication page



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: E1549K
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
View BVdb publication page