Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.D963N
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F8

NM_000132.4:p.D963N

Associated Papers

Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.

Yuan S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

Jourdy Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

Jourdy Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency.

Roualdes O et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."