Associated Papers
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
Souček P et al.
Rna Biology, 2019
31213135 (PubMed )
Supplement: supplement_1.zip › Supplementary_information › supplementary_table1.xlsx › EI_Cr_frequencies
Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene.
Singh NN et al.
Nucleic Acids Research, 2017
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