Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.E51G
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KCNJ11

NM_000525.4:p.E51G

Associated Papers

A Japanese school urine screening program led to the diagnosis of KCNJ11-MODY: A case report.

Hattori A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

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

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.

Proks P et al.

The Journal of Physiology, 1999

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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."