Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.S1500R
Back to variants list

ABCC8

NM_000352.6:p.S1500R

Associated Papers

Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.

Younis H et al.

Journal of Personalized Medicine, 2022

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

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

Tatsi EB et al.

Pediatric Diabetes, 2020

Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.

Artuso R et al.

The Pharmacogenomics Journal, 2015

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."