Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.L171F
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ABCC8

NM_000352.6:p.L171F

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

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Clemente M et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.

Sampathkumar G et al.

Journal of Endocrinological Investigation, 2022

ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.

Timmers M et al.

Diabetes/metabolism Research and Reviews, 2021

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.

Takasawa K et al.

Clinical Endocrinology, 2021

Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.

Moalla M et al.

Frontiers in Endocrinology, 2021

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

Li M et al.

Journal of Diabetes Research, 2021

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Işık E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.

Galcheva S et al.

Frontiers in Endocrinology, 2019

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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."