Publications:

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Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances

Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D

Publication Date: 2022-05-10

Variant appearance in text: VWF: Q1053H

PubMed Link: 35020809

Variant Present in the following documents:

• advancesADV2021005928.pdf

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Von Willebrand Factor Facilitates Intravascular Dissemination of Microsporidia Encephalitozoon hellem.

Frontiers In Cellular And Infection Microbiology

Bao, Jialing J; Mo, Biying B; An, Guozhen G; Luo, Jian J; Poncz, Mortimer M; Pan, Guoqing G; Li, Tian T; Zhou, Zeyang Z

Publication Date: 2021

Variant appearance in text: VWF: Q1053H

PubMed Link: 34095003

Variant Present in the following documents:

• fcimb-11-694957.pdf

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The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Blood

Dong, Xianchi X; Leksa, Nina C NC; Chhabra, Ekta Seth ES; Arndt, Joseph W JW; Lu, Qi Q; Knockenhauer, Kevin E KE; Peters, Robert T RT; Springer, Timothy A TA

Publication Date: 2019-04-04

Variant appearance in text: VWF: Q1053H

PubMed Link: 30642920

Variant Present in the following documents:

• Main text

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Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers.

Research And Practice In Thrombosis And Haemostasis

Bowyer, Annette E AE; Goodfellow, Karen J KJ; Seidel, Holger H; Westhofen, Philipp P; Stufano, Francesca F; Goodeve, Anne A; Kitchen, Stephen S; Makris, Michael M

Publication Date: 2018-10

Variant appearance in text: VWF: Q1053H

PubMed Link: 30349898

Variant Present in the following documents:

• Main text
• RTH2-2-790.pdf

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The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Berber, Ergül E

Publication Date: 2012-12

Variant appearance in text: VWF: Q1053H

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

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Cleavage of von Willebrand factor by granzyme M destroys its factor VIII binding capacity.

Plos One

Hollestelle, Martine J MJ; Lai, Ka Wai KW; van Deuren, Marcel M; Lenting, Peter J PJ; de Groot, Philip G PG; Sprong, Tom T; Bovenschen, Niels N

Publication Date: 2011

Variant appearance in text: VWF: Q1053H

PubMed Link: 21909423

Variant Present in the following documents:

• Main text
• pone.0024216.pdf

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