VWF c.4703T>A ;(p.I1568N)

Variant ID: 12-6127881-A-T

NM_000552.3(VWF):c.4703T>A;(p.I1568N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: I1568N
PubMed Link: 22431572
Variant Present in the following documents:
  • Main text
View BVdb publication page



Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.

Haematologica
Pérez-Rodríguez, Almudena A; García-Rivero, Aranzazu A; Lourés, Esther E; López-Fernández, Maria Fernanda MF; Rodríguez-Trillo, Angela A; Batlle, Javier J
Publication Date: 2009-05

Variant appearance in text: VWF: I1568N
PubMed Link: 19286880
Variant Present in the following documents:
  • Main text
View BVdb publication page