Publications:

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Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.

Viruses

Zguro, Kristina K; Baldassarri, Margherita M; Fava, Francesca F; Beligni, Giada G; Daga, Sergio S; Leoncini, Roberto R; Galasso, Lucrezia L; Cirianni, Michele M; Rusconi, Stefano S; Siano, Matteo M; Francisci, Daniela D; Schiaroli, Elisabetta E; Luchi, Sauro S; Morelli, Giovanna G; Martinelli, Enrico E; Girardis, Massimo M; Busani, Stefano S; Parisi, Saverio Giuseppe SG; Panese, Sandro S; Piscopo, Carmelo C; Capasso, Mario M; Tacconi, Danilo D; Spertilli Raffaelli, Chiara C; Giliberti, Annarita A; Gori, Giulia G; Katsikis, Peter D PD; Lorubbio, Maria M; Calzoni, Paola P; Ognibene, Agostino A; Bocchia, Monica M; Tozzi, Monica M; Bucalossi, Alessandro A; Marotta, Giuseppe G; Furini, Simone S; Gen-Covid Multicenter Study, ; Renieri, Alessandra A; Fallerini, Chiara C

Publication Date: 2022-05-29

Variant appearance in text: VWF: 4007G>A; R1336Q

PubMed Link: 35746657

Variant Present in the following documents:

• viruses-14-01185.pdf

View BVdb publication page

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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: 4007G>A; Arg1336Gln; rs886049741

PubMed Link: 34351388

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine

Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N

Publication Date: 2021-07-16

Variant appearance in text: VWF: 4007G>A; Arg1336Gln; rs886049741

PubMed Link: 34272389

Variant Present in the following documents:

• 41525_2021_228_MOESM1_ESM.pdf

View BVdb publication page

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Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.

Science Advances

Kim, H J HJ; Xu, Y Y; Petri, A A; Vanhoorelbeke, K K; Crawley, J T B JTB; Emsley, J J

Publication Date: 2021-04

Variant appearance in text: VWF: R1336Q

PubMed Link: 33863735

Variant Present in the following documents:

• Main text
• abg4403.pdf

View BVdb publication page

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Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.

Science Advances

Kim, H J HJ; Xu, Y Y; Petri, A A; Vanhoorelbeke, K K; Crawley, J T B JTB; Emsley, J J

Publication Date: 2021-04

Variant appearance in text: VWF: R1336Q

PubMed Link: 33863735

Variant Present in the following documents:

• Main text
• abg4403.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: VWF: R1336Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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