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: P1873L

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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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: Pro1873Leu

PubMed Link: 25139352

Variant Present in the following documents:

• Main text

View BVdb publication page