VWF c.3994_3995delinsGC ;(p.K1332A)

Variant ID: 12-6128589-TT-GC

NM_000552.3(VWF):c.3994_3995delinsGC;(p.K1332A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-domain antibodies targeting antithrombin reduce bleeding in hemophilic mice with or without inhibitors.

Embo Molecular Medicine
Barbon, Elena E; Ayme, Gabriel G; Mohamadi, Amel A; Ottavi, Jean-François JF; Kawecki, Charlotte C; Casari, Caterina C; Verhenne, Sebastien S; Marmier, Solenne S; van Wittenberghe, Laetitia L; Charles, Severine S; Collaud, Fanny F; Denis, Cecile V CV; Christophe, Olivier D OD; Mingozzi, Federico F; Lenting, Peter J PJ
Publication Date: 2020-04-07

Variant appearance in text: VWF: K1332A
PubMed Link: 32159286
Variant Present in the following documents:
  • Main text
  • EMMM-12-e11298.pdf
View BVdb publication page



Identification of amino acid residues responsible for von Willebrand factor binding to sulfatide by charged-to-alanine-scanning mutagenesis.

International Journal Of Hematology
Nakayama, Takayuki T; Matsushita, Tadashi T; Yamamoto, Koji K; Mutsuga, Noriko N; Kojima, Tetsuhito T; Katsumi, Akira A; Nakao, Norihiko N; Sadler, J Evan JE; Naoe, Tomoki T; Saito, Hidehiko H
Publication Date: 2008-05

Variant appearance in text: VWF: K1332A
PubMed Link: 18369690
Variant Present in the following documents:
  • Main text
  • 12185_2008_Article_65.pdf
View BVdb publication page