F8 c.6911G>A ;(p.G2304E)

Variant ID: X-154066017-C-T

NM_000132.3(F8):c.6911G>A;(p.G2304E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis
Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K
Publication Date: 2017-10

Variant appearance in text: F8: 6911G>A; Gly2304Glu
PubMed Link: 30046696
Variant Present in the following documents:
  • Main text
  • RTH2-1-264.pdf
View BVdb publication page



Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood
Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,
Publication Date: 2013-08-01

Variant appearance in text: FVIII: 6911G>A
PubMed Link: 23777763
Variant Present in the following documents:
  • Main text
View BVdb publication page