Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning.
Grønning AGB et al.
Nucleic Acids Research, 2020
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nature Reviews. Neurology, 2011
Functional copper transport explains neurologic sparing in occipital horn syndrome.
Tang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Møller LB et al.
Human Mutation, 2005
Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Cartegni L et al.
Nature Reviews. Genetics, 2002
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX et al.
Nature Genetics, 2001
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
Tümer Z et al.
Advances in Experimental Medicine and Biology, 1999
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