VWF c.3388T>G ;(p.C1130G)

Variant ID: 12-6132056-A-C

NM_000552.3(VWF):c.3388T>G;(p.C1130G)

This variant was identified in 8 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: 3388T>G; Cys1130Gly
PubMed Link: 36299619
Variant Present in the following documents:
  • 10-1055-s-0042-1757635-s22060029.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: Cys1130Gly
PubMed Link: 32864553
Variant Present in the following documents:
  • RTH2-4-1024-s004.xlsx, sheet 1
View BVdb publication page



The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics
Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z
Publication Date: 2020-10

Variant appearance in text: VWF: 3388T>G; Cys1130Gly
PubMed Link: 32827758
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



[The research progress of Von Willebrand disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Yin, Jie J; Ruan, Changgeng C
Publication Date: 2015-07

Variant appearance in text: VWF: C1130G
PubMed Link: 26304092
Variant Present in the following documents:
  • cjh-36-07-616.pdf
View BVdb publication page



The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Berber, Ergül E
Publication Date: 2012-12

Variant appearance in text: VWF: C1130G
PubMed Link: 24385719
Variant Present in the following documents:
  • Main text
  • TJH-29-313.pdf
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von Willebrand's disease diagnosis and laboratory issues.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Castaman, G G; Montgomery, R R RR; Meschengieser, S S SS; Haberichter, S L SL; Woods, A I AI; Lazzari, M A MA
Publication Date: 2010-07

Variant appearance in text: VWF: C1130G
PubMed Link: 20590859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06

Variant appearance in text: VWF: C1130G
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood
Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR
Publication Date: 2008-05-15

Variant appearance in text: VWF: C1130G
PubMed Link: 18344424
Variant Present in the following documents:
  • Main text
View BVdb publication page