Associated Papers
Genome mining yields putative disease-associated ROMK variants with distinct defects.
Nguyen NH et al.
Plos Genetics, 2023
Genome mining yields new disease-associated ROMK variants with distinct defects.
Nguyen NH et al.
Biorxiv : the Preprint Server for Biology, 2023
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_Gnomad_0325322.xlsx › Sheet1
Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Tian M et al.
Frontiers in Medicine, 2022
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