Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Y124D
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ABCC8

NM_000352.6:p.Y124D

Associated Papers

Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KATP channel trafficking.

ElSheikh A et al.

The Journal of Biological Chemistry, 2025

Identification and Rescue of Congenital Hyperinsulinism-Associated ABCC8 Mutations that Impair KATP Channel Trafficking.

ElSheikh A et al.

Biorxiv : the Preprint Server for Biology, 2025

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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."