Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.G1478E
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ABCC8

NM_000352.6:p.G1478E

Associated Papers

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

A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn.

Romanisio G et al.

Acta Diabetologica, 2018

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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."