Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.T119S
Back to variants list

ABCC8

NM_000352.6:p.T119S

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

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Daggag H et al.

Metabolism Open, 2022

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

Li M et al.

Journal of Diabetes Research, 2021

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

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.

Salomon-Estebanez M et al.

Orphanet Journal of Rare Diseases, 2016

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

Mohnike K et al.

Hormone Research in Paediatrics, 2014

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

Russo L et al.

Diabetologia, 2011

Familial focal congenital hyperinsulinism.

Ismail D et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."