VWF c.3101_3103del ;(p.T1034del)

Variant ID: 12-6135076-CTGG-C

NM_000552.3(VWF):c.3101_3103del;(p.T1034del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Frontiers In Pediatrics
Lassandro, Giuseppe G; Palladino, Valentina V; Faleschini, Michela M; Barone, Angelica A; Boscarol, Gianluca G; Cesaro, Simone S; Chiocca, Elena E; Farruggia, Piero P; Giona, Fiorina F; Gorio, Chiara C; Maggio, Angela A; Marinoni, Maddalena M; Marzollo, Antonio A; Palumbo, Giuseppe G; Russo, Giovanna G; Saracco, Paola P; Spinelli, Marco M; Verzegnassi, Federico F; Morga, Francesca F; Savoia, Anna A; Giordano, Paola P
Publication Date: 2022

Variant appearance in text: VWF: 3101_3103del; Thr1034del
PubMed Link: 36507135
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: VWF: T1034del
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



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: 3101_3103del; Thr1034del
PubMed Link: 34351388
Variant Present in the following documents:
  • Main text
View BVdb publication page



VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood
Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR
Publication Date: 2012-03-01

Variant appearance in text: VWF: T1034del
PubMed Link: 22197721
Variant Present in the following documents:
  • Main text
View BVdb publication page