VWF c.3911T>G ;(p.M1304R)

Variant ID: 12-6128673-A-C

NM_000552.3(VWF):c.3911T>G;(p.M1304R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Laboratory variability in the diagnosis of type 2 VWD variants.

Journal Of Thrombosis And Haemostasis : Jth
DiGiandomenico, Stefanie S; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Abshire, Thomas C TC; Montgomery, Robert R RR; Flood, Veronica H VH; ,
Publication Date: 2021-01

Variant appearance in text: VWF: M1304R
PubMed Link: 33049112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and laboratory phenotype variability in type 2M von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Doruelo, A L AL; Haberichter, S L SL; Christopherson, P A PA; Boggio, L N LN; Gupta, S S; Lentz, S R SR; Shapiro, A D AD; Montgomery, R R RR; Flood, V H VH
Publication Date: 2017-08

Variant appearance in text: VWF: M1304R
PubMed Link: 28544236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Blood
Chen, Junmei J; Hinckley, Jesse D JD; Haberichter, Sandra S; Jacobi, Paula P; Montgomery, Robert R; Flood, Veronica H VH; Wong, Randall R; Interlandi, Gianluca G; Chung, Dominic W DW; López, José A JA; Di Paola, Jorge J
Publication Date: 2015-07-09

Variant appearance in text: VWF: M1304R
PubMed Link: 26019279
Variant Present in the following documents:
  • Main text
View BVdb publication page



Collagen binding provides a sensitive screen for variant von Willebrand disease.

Clinical Chemistry
Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Christopherson, Pamela A PA; Jacobi, Paula M PM; Hoffmann, Raymond G RG; Montgomery, Robert R RR; Haberichter, Sandra L SL; ,
Publication Date: 2013-04

Variant appearance in text: VWF: M1304R
PubMed Link: 23340442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Wren, J S JS; Friedman, K D KD; Haberichter, S L SL; Hoffmann, R G RG; Montgomery, R R RR
Publication Date: 2012-07

Variant appearance in text: VWF: M1304R
PubMed Link: 22507643
Variant Present in the following documents:
  • Main text
View BVdb publication page