Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.S594P
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ABCC8

NM_000352.6:p.S594P

Associated Papers

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.

Mouron-Hryciuk J et al.

Annals of Pediatric Endocrinology & Metabolism, 2021

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

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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."