F8 c.6325_6326delinsGC ;(p.R2109A)

Variant ID: X-154124455-CG-GC

NM_000132.3(F8):c.6325_6326delinsGC;(p.R2109A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Modification of an exposed loop in the C1 domain reduces immune responses to factor VIII in hemophilia A mice.

Blood
Wroblewska, Aleksandra A; van Haren, Simon D SD; Herczenik, Eszter E; Kaijen, Paul P; Ruminska, Aleksandra A; Jin, Sheng-Yu SY; Zheng, X Long XL; van den Biggelaar, Maartje M; ten Brinke, Anja A; Meijer, Alexander B AB; Voorberg, Jan J
Publication Date: 2012-05-31

Variant appearance in text: FVIII: Arg2109Ala
PubMed Link: 22498747
Variant Present in the following documents:
  • Main text
View BVdb publication page