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: T770S

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal Of Thrombosis And Haemostasis : Jth

Ogata, K K; Selvaraj, S R SR; Miao, H Z HZ; Pipe, S W SW

Publication Date: 2011-06

Variant appearance in text: FVIII: 2309C>G

PubMed Link: 21645226

Variant Present in the following documents:

• Main text

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