Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.V587G
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ABCC8

NM_000352.6:p.V587G

Associated Papers

ABCC8 Mutation Causing Permanent Neonatal Diabetes Mellitus in Early Infancy: A Case Report.

Manyazewal LM et al.

Ajp Reports, 2025

Early transition to sulfonylurea therapy in infant with DEND syndrome due to F132L ABCC8 mutation.

Tikhonovich Y et al.

Acta Diabetologica, 2022

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.

de Gouveia Buff Passone C et al.

Pediatric Diabetes, 2022

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

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.

Takeda R et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2015

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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."