Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.N48I
Back to variants list

KCNJ11

NM_000525.4:p.N48I

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

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

A pathway to insulin independence in newborns and infants with diabetes.

Shahawy S et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."