Associated Papers
Identification of biallelic variations of CEP70 in patients with male infertility.
Ruan T et al.
Frontiers in Endocrinology, 2023
36967801 (PubMed )
Supplement: Table_1.xlsx › Patient_1
Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia.
Chuansumrit A et al.
The Application of Clinical Genetics, 2022
Prediction of hemophilia A severity using a small-input machine-learning framework.
Lopes TJS et al.
Npj Systems Biology and Applications, 2021
34035274 (PubMed )
Supplement: 41540_2021_183_MOESM2_ESM.xlsx › Training_Set
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
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.
Pahl S et al.
Thrombosis and Haemostasis, 2014
Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.
Seo JY et al.
Blood Research, 2013
Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.
Ogata K et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
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