VWF c.311_312del ;(p.Q104Rfs*19)

Variant ID: 12-6220043-CCT-C

NM_000552.3(VWF):c.311_312del;(p.Q104Rfs*19)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Blood Advances
Baronciani, Luciano L; Peake, Ian I; Schneppenheim, Reinhard R; Goodeve, Anne A; Ahmadinejad, Minoo M; Badiee, Zahra Z; Baghaipour, Mohammad-Reza MR; Benitez, Olga O; Bodó, Imre I; Budde, Ulrich U; Cairo, Andrea A; Castaman, Giancarlo G; Eshghi, Peyman P; Goudemand, Jenny J; Hassenpflug, Wolf W; Hoorfar, Hamid H; Karimi, Mehran M; Keikhaei, Bijan B; Lassila, Riitta R; Leebeek, Frank W G FWG; Lopez Fernandez, Maria Fernanda MF; Mannucci, Pier Mannuccio PM; Marino, Renato R; Nikšić, Nikolas N; Oyen, Florian F; Santoro, Cristina C; Tiede, Andreas A; Toogeh, Gholamreza G; Tosetto, Alberto A; Trossaert, Marc M; Zetterberg, Eva M K EMK; Eikenboom, Jeroen J; Federici, Augusto B AB; Peyvandi, Flora F
Publication Date: 2021-08-10

Variant appearance in text: VWF: 311_312delAG
PubMed Link: 34351388
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Q104Rfs*19
PubMed Link: 27532107
Variant Present in the following documents:
  • Main text
  • pone.0161310.pdf
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: 311_312delAG; Q104RfsX19
PubMed Link: 23777763
Variant Present in the following documents:
  • Main text
View BVdb publication page