Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.E1479K
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ABCC8

NM_000352.6:p.E1479K

Associated Papers

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

Pacheco G et al.

Plos One, 2025

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.

Hopkins JJ et al.

Human Mutation, 2023

40225155 (PubMed )
Supplement: 8857940.f1.pdf

Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.

Casertano A et al.

Italian Journal of Pediatrics, 2020

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.

Kapoor RR et al.

Diabetologia, 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."