Publications:

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Desmopressin for bleeding in non-severe hemophilia A: Suboptimal use in a real-world setting.

Research And Practice In Thrombosis And Haemostasis

Zwagemaker, Anne-Fleur AF; Kloosterman, Fabienne R FR; Coppens, Michiel M; Gouw, Samantha C SC; Boyce, Sara S; Bagot, Catherine N CN; Beckers, Erik A M EAM; Brons, Paul P; Castaman, Giancarlo G; Eikenboom, Jeroen J; Jackson, Shannon S; Kruip, Marieke J H A MJHA; Leebeek, Frank W G FWG; Meijer, Karina K; Nieuwenhuizen, Laurens L; Pabinger, Ingrid I; Fijnvandraat, Karin K; ,

Publication Date: 2022-08

Variant appearance in text: F8: Trp2248Cys

PubMed Link: 36090159

Variant Present in the following documents:

• Main text
• RTH2-6-e12777.pdf

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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: F8: W2248C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: W2248C

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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HLA-DRB1-factor VIII binding is a risk factor for inhibitor development in nonsevere hemophilia: a case-control study.

Blood Advances

Kempton, Christine L CL; Payne, Amanda B AB

Publication Date: 2018-07-24

Variant appearance in text: FVIII: Trp2248Cys

PubMed Link: 30037801

Variant Present in the following documents:

• Main text

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Desmopressin in moderate hemophilia A patients: a treatment worth considering.

Haematologica

Loomans, Janneke I JI; Kruip, Marieke J H A MJHA; Carcao, Manuel M; Jackson, Shannon S; van Velzen, Alice S AS; Peters, Marjolein M; Santagostino, Elena E; Platokouki, Helen H; Beckers, Erik E; Voorberg, Jan J; van der Bom, Johanna G JG; Fijnvandraat, Karin K; ,

Publication Date: 2018-03

Variant appearance in text: FVIII: Trp2248Cys

PubMed Link: 29305412

Variant Present in the following documents:

• Main text
• 1030550.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: W2248C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A.

Blood

Castaman, Giancarlo G; Fijnvandraat, Karin K

Publication Date: 2014-10-09

Variant appearance in text: FVIII: Trp2248Cys

PubMed Link: 25139352

Variant Present in the following documents:

• Main text

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In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.

Journal Of Biomedical Science

Doss C, George Priya GP

Publication Date: 2012-03-16

Variant appearance in text: FVIII: W2248C

PubMed Link: 22423892

Variant Present in the following documents:

• Main text
• 1423-0127-19-30.pdf

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