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
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Elfert KA et al.
The American Journal of Case Reports, 2020
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.
Li J et al.
Medicine, 2019
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