Associated Papers
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_original_annotations_.xlsx › clinvar_result-6
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist.
Calò LA et al.
Journal of Nephrology, 2021
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.
Broeckx BJG et al.
Bmc Bioinformatics, 2017
29191167 (PubMed )
Supplement: 12859_2017_1951_MOESM5_ESM.xls › Sheet1
Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment.
Karnes JH et al.
The Pharmacogenomics Journal, 2013
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.
Simon DB et al.
Nature Genetics, 1996
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