Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.A1509ins2
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ABCC8

NM_000352.6:p.A1509ins2

Associated Papers

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL et al.

Human Mutation, 2006

Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children.

Thomas PM

Endocrinology and Metabolism Clinics of North America, 1999

Genetic heterogeneity in familial hyperinsulinism.

Nestorowicz A et al.

Human Molecular Genetics, 1998

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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."