Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G334C
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KCNJ11

NM_000525.4:p.G334C

Associated Papers

Neonatal diabetes in Ireland over the past 19 years: Clinical presentation, management, genetics, and outcomes.

Woon Y et al.

Hormone Research in Paediatrics, 2026

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B et al.

Journal of Diabetes, 2021

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

Babiker T et al.

Diabetologia, 2016

Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes.

Myngheer N et al.

Diabetes Care, 2014

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."