VWF c.4079T>C ;(p.V1360A)

Variant ID: 12-6128505-A-G

NM_000552.3(VWF):c.4079T>C;(p.V1360A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs267607338
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Analysis of von Willebrand Disease in the "Heart of Europe".

Th Open : Companion Journal To Thrombosis And Haemostasis
Vangenechten, Inge I; Smejkal, Petr P; Zavrelova, Jiri J; Zapletal, Ondrej O; Wild, Alexander A; Michiels, Jan Jacques JJ; Berneman, Zwi Z; Blatny, Jan J; Batorova, Angelika A; Prigancova, Tatiana T; Penka, Miroslav M; Gadisseur, Alain A
Publication Date: 2022-10

Variant appearance in text: VWF: 4079T>C; Val1360Ala
PubMed Link: 36299619
Variant Present in the following documents:
  • 10-1055-s-0042-1757635-s22060029.pdf
View BVdb publication page



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: V1360A
PubMed Link: 35452508
Variant Present in the following documents:
  • advancesADV2022007216.pdf
  • advancesADV2022007216-suppl1.pdf
View BVdb publication page



Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Journal Of Thrombosis And Haemostasis : Jth
Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniƫlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM
Publication Date: 2022-02

Variant appearance in text: VWF: Val1360Ala
PubMed Link: 34758185
Variant Present in the following documents:
  • Main text
  • JTH-20-316.pdf
View BVdb publication page



Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis
Vangenechten, Inge I; Gadisseur, Alain A
Publication Date: 2020-08

Variant appearance in text: VWF: Val1360Ala
PubMed Link: 32864553
Variant Present in the following documents:
  • RTH2-4-1024-s004.xlsx, sheet 1
View BVdb publication page



Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One
Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: VWF: 4079T>C; V1360A
PubMed Link: 24675615
Variant Present in the following documents:
  • Main text
  • pone.0092575.pdf
View BVdb publication page



Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Blood
Starke, Richard D RD; Paschalaki, Koralia E KE; Dyer, Clare E F CE; Harrison-Lavoie, Kimberly J KJ; Cutler, Jacqueline A JA; McKinnon, Thomas A J TA; Millar, Carolyn M CM; Cutler, Daniel F DF; Laffan, Mike A MA; Randi, Anna M AM
Publication Date: 2013-04-04

Variant appearance in text: VWF: V1360A
PubMed Link: 23355534
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth
Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,
Publication Date: 2013-03

Variant appearance in text: VWF: 4079T>C; Val1360Ala
PubMed Link: 23311757
Variant Present in the following documents:
  • Main text
View BVdb publication page