Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.E100K
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ABCC8

NM_000352.6:p.E100K

Associated Papers

The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.

Marassi M et al.

Current Diabetes Reports, 2024

A case report of maturity-onset diabetes of the young (MODY12) in a Chinese Han patient with a novel ABCC8 gene mutation.

Wang Y et al.

Medicine, 2022

ABCC8-related maturity-onset diabetes of the young: Clinical features and genetic analysis of one case.

Zhou Y et al.

Pediatric Diabetes, 2022

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.

Hernandez-Gonzalez I et al.

Cells, 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

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Castaño JAT et al.

Genes, 2020

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients.

Lago-Docampo M et al.

Scientific Reports, 2020

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

Tatsi EB et al.

Pediatric Diabetes, 2020

Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.

Firdous P et al.

Frontiers in Endocrinology, 2018

Heterozygous ABCC8 mutations are a cause of MODY.

Bowman P et al.

Diabetologia, 2012

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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."