Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.F577L
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ABCC8

NM_000352.6:p.F577L

Associated Papers

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.

Costa-Riquetto AD et al.

Clinical Genetics, 2023

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.

Li M et al.

Journal of Diabetes Research, 2021

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

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

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

Katanic D et al.

Diabetes Research and Clinical Practice, 2017

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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."