VWF c.3917G>T ;(p.R1306L)

Variant ID: 12-6128667-C-A

NM_000552.3(VWF):c.3917G>T;(p.R1306L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances
Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F
Publication Date: 2022-07-12

Variant appearance in text: VWF: R1306L
PubMed Link: 35452508
Variant Present in the following documents:
  • advancesADV2022007216.pdf
View BVdb publication page



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: R1306L
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
View BVdb publication page



Changes in thermodynamic stability of von Willebrand factor differentially affect the force-dependent binding to platelet GPIbalpha.

Biophysical Journal
Auton, Matthew M; Sedlák, Erik E; Marek, Jozef J; Wu, Tao T; Zhu, Cheng C; Cruz, Miguel A MA
Publication Date: 2009-07-22

Variant appearance in text: VWF: R1306L
PubMed Link: 19619477
Variant Present in the following documents:
  • Main text
View BVdb publication page