Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.A113V
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ABCC8

NM_000352.6:p.A113V

Associated Papers

Congenital Hyperinsulinaemic Hypoglycaemia-A Review and Case Presentation.

Krawczyk S et al.

Journal of Clinical Medicine, 2022

Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.

Martin GM et al.

Molecular and Cellular Endocrinology, 2020

Targeted pharmacotherapies for defective ABC transporters.

Vauthier V et al.

Biochemical Pharmacology, 2017

Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

Martin GM et al.

The Journal of Biological Chemistry, 2016

Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.

Nessa A et al.

Human Molecular Genetics, 2015

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

Arya VB et al.

European Journal of Endocrinology, 2014

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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."