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
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Hernández NEG et al.
Archives of Medical Research, 2023
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.
Vaisbich MH et al.
Nephron, 2023
Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay.
Xin Q et al.
Frontiers in Genetics, 2022
Genetic heterogeneity in patients with Bartter syndrome type 1.
Sun M et al.
Molecular Medicine Reports, 2017
Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function.
Monette MY et al.
American Journal of Physiology. Renal Physiology, 2011
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R et al.
American Journal of Human Genetics, 1998
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