Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.E1506D
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ABCC8

NM_000352.6:p.E1506D

Associated Papers

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.

Li M et al.

Journal of Diabetes Research, 2021

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.

Hashimoto Y et al.

Pediatric Diabetes, 2017

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

Yang Y et al.

Endocrine Reviews, 2016

Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP.

Ortiz D et al.

Frontiers in Endocrinology, 2015

Neonatal diabetes caused by activating mutations in the sulphonylurea receptor.

Proks P

Diabetes & Metabolism Journal, 2013

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.

Männikkö R et al.

Diabetes, 2011

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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."