Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.
Law CY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
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
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.
Kondo A et al.
Scientific Reports, 2021
34373523 (PubMed )
Supplement: 41598_2021_95521_MOESM1_ESM.pdf
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
Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.
Ravarotto V et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.
Nandakumar P et al.
Medicine, 2018
30113482 (PubMed )
Supplement: medi-97-e11865-s001.pdf
Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
Takeuchi Y et al.
Journal of the American Society of Nephrology : Jasn, 2015
[A novel mutation of the thiazide-sensitive Na-Cl cotransporter gene in a patient with Gitelman's syndrome].
Okada H et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2010
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
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