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Updated: Jun 2, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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An Interesting Case of Sulphonylurea-Responsive Permanent Neonatal Diabetes Mellitus With Potassium Channel Mutation

Kristina O'Connell1, Claudia Nadernejad2, Caleb Bupp3

  • 1Chicago College of Osteopathic Medicine (CCOM), Midwestern University Chicago College of Osteopathic Medicine, Chicago, USA.

Cureus
|June 1, 2026
PubMed

Keywords:
diabeteshyperglycemiahypothermianeonatal carewhole genome sequencing

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