Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.Y330C
Back to variants list

FOXP3

NM_014009.4:p.Y330C

Associated Papers

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Gloyn AL et al.

Human Mutation, 2006

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Hattersley AT et al.

Diabetes, 2005

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS et al.

Annals of Medicine, 2005

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV et al.

Diabetes, 2004

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

Vaxillaire M et al.

Diabetes, 2004

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."