Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Y179*
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ABCC8

NM_000352.6:p.Y179*

Associated Papers

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.

Pacheco G et al.

Plos One, 2025

Congenital hyperinsulinism in the Ukraine: a 10-year national study.

Globa E et al.

Frontiers in Endocrinology, 2024

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

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Flanagan SE et al.

Human Mutation, 2009

Neonatal diabetes mellitus.

Aguilar-Bryan L et al.

Endocrine Reviews, 2008

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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."