Associated Papers
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.
Popp NA et al.
Nature Structural & Molecular Biology, 2025
Multiplex, multimodal mapping of variant effects in secreted proteins.
Popp NA et al.
Biorxiv : the Preprint Server for Biology, 2025
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
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Meireles MR et al.
Human Mutation, 2019
Molecular characterization of haemophilia B patients in southern Brazil.
Meireles MR et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
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