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_edited_annotations_.xlsx › clinvar_KCNJx_0325322
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.
Paninka RM et al.
Molecular Genetics and Genomics : Mgg, 2016
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.
Zheng J et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2016
Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.
Cheng CJ et al.
The Journal of Biological Chemistry, 2011
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