Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.E179K
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KCNJ11

NM_000525.4:p.E179K

Associated Papers

Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.

Ba T et al.

Clinical Endocrinology, 2024

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

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

Bonfanti R et al.

European Journal of Endocrinology, 2021

Evaluating inositol phospholipid interactions with inward rectifier potassium channels and characterising their role in disease.

Pipatpolkai T et al.

Communications Chemistry, 2020

36703430 (PubMed )
Supplement: 42004_2020_391_MOESM2_ESM.pdf

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

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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."