Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.H103Y
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ABCC8

NM_000352.6:p.H103Y

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.

Wang P et al.

Clinical Genetics, 2024

Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.

Lee DH et al.

Bmj Open Diabetes Research & Care, 2021

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

Li M et al.

Journal of Diabetes Research, 2021

Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young.

Tang C et al.

Frontiers in Endocrinology, 2021

35002955 (PubMed )
Supplement: Table_2.xlsx › Sheet1

Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.

Tatsi EB et al.

Pediatric Diabetes, 2020

Clinical whole exome sequencing in early onset diabetes patients.

Kwak SH et al.

Diabetes Research and Clinical Practice, 2016

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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."