VWF c.55G>C ;(p.G19R)

Variant ID: 12-6232308-C-G

NM_000552.3(VWF):c.55G>C;(p.G19R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood Advances
Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
Publication Date: 2022-09-27

Variant appearance in text: VWF: G19R
PubMed Link: 35446929
Variant Present in the following documents:
  • advancesADV2021006757.pdf
View BVdb publication page



The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.

Haematologica
Hampshire, Daniel J DJ; Goodeve, Anne C AC
Publication Date: 2011-06

Variant appearance in text: VWF: Gly19Arg
PubMed Link: 21632843
Variant Present in the following documents:
  • Main text
View BVdb publication page