Associated Papers
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
40225155 (PubMed )
Supplement: 8857940.f1.pdf
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
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
Wang F et al.
The Journal of Biological Chemistry, 2012
First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism.
Qubbaj W et al.
Reproductive Biomedicine Online, 2011
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
Lin YW et al.
The Journal of Biological Chemistry, 2008
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