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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
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