VWF c.1751G>T ;(p.C584F)

Variant ID: 12-6166217-C-A

NM_000552.3(VWF):c.1751G>T;(p.C584F)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One
Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P
Publication Date: 2016

Variant appearance in text: VWF: C584F
PubMed Link: 27532107
Variant Present in the following documents:
  • Main text
  • pone.0161310.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: VWF: C584F
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



[The function and clinical value of Von Willebrand factor propeptide].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Yin, Jie J; Ruan, Changgeng C
Publication Date: 2015-10

Variant appearance in text: VWF: C584F
PubMed Link: 26477774
Variant Present in the following documents:
  • Main text
  • cjh-36-10-883.pdf
View BVdb publication page



von Willebrand factor propeptide: biology and clinical utility.

Blood
Haberichter, Sandra L SL
Publication Date: 2015-10-08

Variant appearance in text: VWF: C584F
PubMed Link: 26215113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood
Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,
Publication Date: 2013-08-01

Variant appearance in text: VWF: C584F
PubMed Link: 23777763
Variant Present in the following documents:
  • Main text
View BVdb publication page