Associated Papers
Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.
Abreu GM et al.
Frontiers in Clinical Diabetes and Healthcare, 2025
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_original_annotations_.xlsx › clinvar_result-6
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal Diabetes.
Bowman P et al.
Diabetes Care, 2019
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
Fraser CS et al.
European Journal of Endocrinology, 2012
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