VWF c.3910A>G ;(p.M1304V)

Variant ID: 12-6128674-T-C

NM_000552.3(VWF):c.3910A>G;(p.M1304V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances
Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA
Publication Date: 2022-06-28

Variant appearance in text: VWF: M1304V
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
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: M1304V
PubMed Link: 26019279
Variant Present in the following documents:
  • Main text
View BVdb publication page