Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Y179_G180delFs
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ABCC8

NM_000352.6:p.Y179_G180delFs

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

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.

Patch AM et al.

Diabetes, Obesity & Metabolism, 2007

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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."