Associated Papers
A practical framework for predicting splicing single nucleotide variants in exome sequencing.
Utsuno Y et al.
Nar Genomics and Bioinformatics, 2025
41424762 (PubMed )
Supplement: lqaf180_supplemental_files.zip › Supplementary_Tables_final.xlsx › Table_S6
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Pacault M et al.
European Journal of Human Genetics : Ejhg, 2018
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