Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.I49F
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KCNJ11

NM_000525.4:p.I49F

Associated Papers

Structure of an open KATP channel reveals tandem PIP2 binding sites mediating the Kir6.2 and SUR1 regulatory interface.

Driggers CM et al.

Nature Communications, 2024

Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.

Gopi S et al.

Pediatric Diabetes, 2021

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

Garcin L et al.

Pediatric Diabetes, 2020

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

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.

Globa E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

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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."