F8 c.6334_6335delinsGC ;(p.F2112A)

Variant ID: X-154124446-AA-GC

NM_000132.3(F8):c.6334_6335delinsGC;(p.F2112A)

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: Phe2112Ala
PubMed Link: 22498747
Variant Present in the following documents:
  • Main text
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