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F8 c.164A>G ;(p.K55R)
Variant ID: X-154227855-T-C
NM_000132.3(
F8
):c.164A>G;(p.K55R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Targeted inhibition of activated protein C by a non-active-site inhibitory antibody to treat hemophilia.
Nature Communications
Zhao, Xiao-Yan XY; Wilmen, Andreas A; Wang, Dongli D; Wang, Xinquan X; Bauzon, Maxine M; Kim, Ji-Yun JY; Linden, Lars L; Li, Liang L; Egner, Ursula U; Marquardt, Tobias T; Moosmayer, Dieter D; Tebbe, Jan J; Glück, Julian Marius JM; Ellinger, Philipp P; McLean, Kirk K; Yuan, Shujun S; Yegneswaran, Subramanian S; Jiang, Xiaoqiao X; Evans, Vince V; Gu, Jian-Ming JM; Schneider, Doug D; Zhu, Ying Y; Xu, Yifan Y; Mallari, Cornell C; Hesslein, Ashley A; Wang, Yan Y; Schmidt, Nicole N; Gutberlet, Katrin K; Ruehl-Fehlert, Christine C; Freyberger, Alexius A; Hermiston, Terry T; Patel, Chandra C; Sim, Derek D; Mosnier, Laurent O LO; Laux, Volker V
Publication Date: 2020-06-12
Variant appearance in text: FVIII: K55R
PubMed Link:
32532974
Variant Present in the following documents:
Main text
41467_2020_Article_16720.pdf
View BVdb publication page