VWF c.8155+6T>C

Variant ID: 12-6061004-A-G

NM_000552.3(VWF):c.8155+6T>C

This variant was identified in 2 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: rs1223422347
PubMed Link: 34351388
Variant Present in the following documents:
  • Main text
View BVdb publication page



Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.

Haematologica
Platè, Manuela M; Duga, Stefano S; Baronciani, Luciano L; La Marca, Silvia S; Rubini, Valentina V; Mannucci, Pier Mannuccio PM; Federici, Augusto B AB; Asselta, Rosanna R
Publication Date: 2010-01

Variant appearance in text: VWF: 8155+6T>C
PubMed Link: 19773258
Variant Present in the following documents:
  • Main text
View BVdb publication page