VWF c.4022G>C ;(p.R1341P)

Variant ID: 12-6128562-C-G

NM_000552.3(VWF):c.4022G>C;(p.R1341P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Hemasphere
Atiq, Ferdows F; Boender, Johan J; van Heerde, Waander L WL; Tellez Garcia, Juan M JM; Schoormans, Selene C SC; Krouwel, Sandy S; Cnossen, Marjon H MH; Laros-van Gorkom, Britta A P BAP; de Meris, Joke J; Fijnvandraat, Karin K; van der Bom, Johanna G JG; Meijer, Karina K; van Galen, Karin P M KPM; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
Publication Date: 2022-06

Variant appearance in text: VWF: R1341P
PubMed Link: 35747851
Variant Present in the following documents:
  • Main text
  • hs9-6-e718.pdf
View BVdb publication page



Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.

Hemasphere
Boender, Johan J; Atiq, Ferdows F; Cnossen, Marjon H MH; van der Bom, Johanna G JG; Fijnvandraat, Karin K; de Meris, Joke J; de Maat, Moniek P M MPM; van Galen, Karin P M KPM; Laros-van Gorkom, Britta A P BAP; Meijer, Karina K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
Publication Date: 2021-03

Variant appearance in text: VWF: R1341P
PubMed Link: 33623884
Variant Present in the following documents:
  • Main text
  • hs9-5-e542.pdf
View BVdb publication page