Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G228D
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KCNJ11

NM_000525.4:p.G228D

Associated Papers

Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KATP channel trafficking.

ElSheikh A et al.

The Journal of Biological Chemistry, 2025

Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.

Cheng M et al.

Pediatric Diabetes, 2024

40302972 (PubMed )
Supplement: 3961900.f1.docx

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

Greer RM et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."