VWF c.2344_2345delinsGC ;(p.R782A)

Variant ID: 12-6153554-CG-GC

NM_000552.3(VWF):c.2344_2345delinsGC;(p.R782A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


D' domain region Arg782-Cys799 of von Willebrand factor contributes to factor VIII binding.

Haematologica
Przeradzka, MaƂgorzata A MA; van Galen, Josse J; Ebberink, Eduard H T M EHTM; Hoogendijk, Arie J AJ; van der Zwaan, Carmen C; Mertens, Koen K; van den Biggelaar, Maartje M; Meijer, Alexander B AB
Publication Date: 2020-06

Variant appearance in text: VWF: Arg782Ala
PubMed Link: 31558672
Variant Present in the following documents:
  • Main text
  • 1051695.pdf
View BVdb publication page