Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G53V
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KCNJ11

NM_000525.4:p.G53V

Associated Papers

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

Rapini N et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Neonatal Diabetes Mellitus: Novel Mutations.

Nayak S et al.

Indian Journal of Pediatrics, 2021

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

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

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

KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.

Khadilkar VV et al.

Indian Journal of Pediatrics, 2010

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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."