Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.E126K
Back to variants list

KCNJ11

NM_000525.4:p.E126K

Associated Papers

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

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."