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VWF c.4084_4085delinsGC ;(p.K1362A)
Variant ID: 12-6128499-TT-GC
NM_000552.3(
VWF
):c.4084_4085delinsGC;(p.K1362A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel aptamer to von Willebrand factor A1 domain (TAGX-0004) shows total inhibition of thrombus formation superior to ARC1779 and comparable to caplacizumab.
Haematologica
Sakai, Kazuya K; Someya, Tatsuhiko T; Harada, Kaori K; Yagi, Hideo H; Matsui, Taei T; Matsumoto, Masanori M
Publication Date: 2020-11-01
Variant appearance in text: VWF: K1362A
PubMed Link:
33131252
Variant Present in the following documents:
Main text
1052631.pdf
View BVdb publication page
Von Willebrand Disease: From In Vivo to In Vitro Disease Models.
Hemasphere
de Boer, Suzan S; Eikenboom, Jeroen J
Publication Date: 2019-10
Variant appearance in text: VWF: K1362A
PubMed Link:
31942548
Variant Present in the following documents:
hs9-3-e297.pdf
View BVdb publication page
Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.
Mediterranean Journal Of Hematology And Infectious Diseases
Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cécile V CV
Publication Date: 2013
Variant appearance in text: VWF: K1362A
PubMed Link:
23936618
Variant Present in the following documents:
Main text
mjhid-5-1-e2013047.pdf
View BVdb publication page