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: S603T

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.

Scientific Reports

Wei, Wei W; Zheng, Chunlei C; Zhu, Min M; Zhu, Xiaofan X; Yang, Renchi R; Misra, Saurav S; Zhang, Bin B

Publication Date: 2017-03-22

Variant appearance in text: FVIII: 1808G>C

PubMed Link: 28327546

Variant Present in the following documents:

• Main text

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