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: Y1805N

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.

The Biochemical Journal

Wei, Wei W; Misra, Saurav S; Cannon, Matthew V MV; Yang, Renchi R; Zhu, Xiaofan X; Gilmore, Reid R; Zhu, Min M; Zhang, Bin B

Publication Date: 2018-03-06

Variant appearance in text: FVIII: 5413T>A

PubMed Link: 29444815

Variant Present in the following documents:

• Main text

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