Associated Papers
Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.
Bragança R et al.
Cureus, 2026
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
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.
Shi X et al.
Molecular Genetics & Genomic Medicine, 2023
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
Riveira-Munoz E et al.
Journal of the American Society of Nephrology : Jasn, 2007
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