VWF c.4073G>A ;(p.S1358N)

Variant ID: 12-6128511-C-T

NM_000552.3(VWF):c.4073G>A;(p.S1358N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Crucial role for the VWF A1 domain in binding to type IV collagen.

Blood
Flood, Veronica H VH; Schlauderaff, Abraham C AC; Haberichter, Sandra L SL; Slobodianuk, Tricia L TL; Jacobi, Paula M PM; Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Gill, Joan Cox JC; Hoffmann, Raymond G RG; Montgomery, Robert R RR; ,
Publication Date: 2015-04-02

Variant appearance in text: VWF: S1358N
PubMed Link: 25662333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Larsen, D M DM; Haberichter, S L SL; Gill, J C JC; Shapiro, A D AD; Flood, V H VH
Publication Date: 2013-07

Variant appearance in text: VWF: S1358N
PubMed Link: 23496210
Variant Present in the following documents:
  • Main text
View BVdb publication page