VWF c.3232G>A ;(p.E1078K)

Variant ID: 12-6132944-C-T

NM_000552.3(VWF):c.3232G>A;(p.E1078K)

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: E1078K
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
View BVdb publication page



The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Blood
Dong, Xianchi X; Leksa, Nina C NC; Chhabra, Ekta Seth ES; Arndt, Joseph W JW; Lu, Qi Q; Knockenhauer, Kevin E KE; Peters, Robert T RT; Springer, Timothy A TA
Publication Date: 2019-04-04

Variant appearance in text: VWF: E1078K
PubMed Link: 30642920
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12

Variant appearance in text: VWF: E1078K
PubMed Link: 24385719
Variant Present in the following documents:
  • TJH-29-313.pdf
View BVdb publication page