Publications:

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: P149R

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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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: Pro149Arg

PubMed Link: 29305412

Variant Present in the following documents:

• Main text
• 1030550.pdf

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Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One

Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: FVIII: Pro149Arg

PubMed Link: 24845853

Variant Present in the following documents:

• Main text
• pone.0097337.pdf

View BVdb publication page