Associated Papers
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data
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
Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.
Chavali S et al.
Genomics, 2009
Role of the glycine triad in the ATP-binding site of cAMP-dependent protein kinase.
Hemmer W et al.
The Journal of Biological Chemistry, 1997
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