Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.F333L
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KCNJ11

NM_000525.4:p.F333L

Associated Papers

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

Recent Advances in Neonatal Diabetes.

Dahl A et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020

Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.

Jain V et al.

Indian Pediatrics, 2017

Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.

Philla KQ et al.

Diabetes Care, 2013

Parametrisation of the free energy of ATP binding to wild-type and mutant Kir6.2 potassium channels.

Moran O et al.

Biophysical Chemistry, 2013

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

Antcliff JF et al.

The Embo Journal, 2005

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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."