Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.L171P
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ABCC8

NM_000352.6:p.L171P

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

The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.

Marassi M et al.

Current Diabetes Reports, 2024

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