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
Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay.
Xin Q et al.
Frontiers in Genetics, 2022
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Han Y et al.
Endocrine, 2019
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