Associated Papers
Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome.
Xiao L et al.
Nephrology (carlton, Vic.), 2025
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.
Wan ER et al.
Kidney International Reports, 2023
36938092 (PubMed )
Supplement: mmc1.pdf
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha R et al.
Pediatric Nephrology (berlin, Germany), 2022
A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.
Yang S et al.
Bmc Nephrology, 2022
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
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