Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.H46R
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KCNJ11

NM_000525.4:p.H46R

Associated Papers

Diagnosis and Phenotypes of Idiopathic Diabetes: A Systematic Review.

El Nahas R et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Dusatkova P et al.

Acta Diabetologica, 2022

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

Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age.

Lin Y et al.

Bmj Open Diabetes Research & Care, 2020

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 years of age.

Moritani M et al.

Pediatric Diabetes, 2013

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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."