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: V276M

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.

Blood

Hudecova, Irena I; Jiang, Peiyong P; Davies, Joanna J; Lo, Y M Dennis YMD; Kadir, Rezan A RA; Chiu, Rossa W K RWK

Publication Date: 2017-07-20

Variant appearance in text: F8: 826G>A; Val276Met

PubMed Link: 28490568

Variant Present in the following documents:

• Main text

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Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis.

International Journal Of Women'S Health

Gahan, Peter B PB

Publication Date: 2013

Variant appearance in text: F8: 826G>A

PubMed Link: 23637563

Variant Present in the following documents:

• Main text

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