VWF c.4133C>T ;(p.S1378F)

Variant ID: 12-6128451-G-A

NM_000552.3(VWF):c.4133C>T;(p.S1378F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: 4133C>T; Ser1378Phe
PubMed Link: 36299619
Variant Present in the following documents:
  • 10-1055-s-0042-1757635-s22060029.pdf
View BVdb publication page



Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Croatian Medical Journal
Lapić, Ivana I; Radić Antolic, Margareta M; Boban, Ana A; Coen Herak, Desiree D; Rogić, Dunja D; Zadro, Renata R
Publication Date: 2022-04-30

Variant appearance in text: VWF: 4133C>T; Ser1378Phe
PubMed Link: 35505650
Variant Present in the following documents:
  • Main text
  • CroatMedJ_63_0166.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: S1378F
PubMed Link: 35452508
Variant Present in the following documents:
  • advancesADV2022007216-suppl1.pdf
  • advancesADV2022007216.pdf
View BVdb publication page



Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.

Genes
Lago, Juliana J; Groot, Helena H; Navas, Diego D; Lago, Paula P; Gamboa, María M; Calderón, Dayana D; Polanía-Villanueva, Diana C DC
Publication Date: 2021-11-18

Variant appearance in text: VWF: 4133C>T; Ser1378Phe; rs61750073
PubMed Link: 34828413
Variant Present in the following documents:
  • Main text
  • genes-12-01807.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: VWF: 4133C>T; S1378F
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: Ser1378Phe
PubMed Link: 32864553
Variant Present in the following documents:
  • RTH2-4-1024-s004.xlsx, sheet 1
View BVdb publication page



Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica
Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I
Publication Date: 2017-12

Variant appearance in text: VWF: 4133C>T; Ser1378Phe
PubMed Link: 28971901
Variant Present in the following documents:
  • 2017.168765.BORRAS_SUPPL.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: VWF: 4133C>T; S1378F
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
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: S1378F
PubMed Link: 23355534
Variant Present in the following documents:
  • Main text
View BVdb publication page