Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.W91*
Back to variants list

KCNJ11

NM_000525.4:p.W91*

Associated Papers

Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.

Yavas Abali Z et al.

Endocrine, 2025

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

Demirbilek H et al.

European Journal of Endocrinology, 2014

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

Park SE et al.

European Journal of Endocrinology, 2011

Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.

Oçal G et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."