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PC c.46A>C ;(p.I16L)
Variant ID: 11-66639585-T-G
NM_001040716.1(
PC
):c.46A>C;(p.I16L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Protein-Engineered Coagulation Factors for Hemophilia Gene Therapy.
Molecular Therapy. Methods & Clinical Development
Samelson-Jones, Benjamin J BJ; Arruda, Valder R VR
Publication Date: 2019-03-15
Variant appearance in text: PC: I16L
PubMed Link:
30705923
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Engineered factor Xa variants retain procoagulant activity independent of direct factor Xa inhibitors.
Nature Communications
Verhoef, Daniƫl D; Visscher, Koen M KM; Vosmeer, C Ruben CR; Cheung, Ka Lei KL; Reitsma, Pieter H PH; Geerke, Daan P DP; Bos, Mettine H A MHA
Publication Date: 2017-09-13
Variant appearance in text: PC: I16L
PubMed Link:
28904343
Variant Present in the following documents:
Main text
41467_2017_Article_647.pdf
View BVdb publication page
Zymogen-like factor Xa variants restore thrombin generation and effectively bypass the intrinsic pathway in vitro.
Blood
Bunce, Matthew W MW; Toso, Raffaella R; Camire, Rodney M RM
Publication Date: 2011-01-06
Variant appearance in text: PC: I16L
PubMed Link:
20864578
Variant Present in the following documents:
Main text
View BVdb publication page