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: D186E

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis

Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K

Publication Date: 2017-10

Variant appearance in text: F8: 558C>G; Asp186Glu

PubMed Link: 30046696

Variant Present in the following documents:

• Main text
• RTH2-1-264.pdf

View BVdb publication page