Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.L267L
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KCNJ11

NM_000525.4:p.L267L

Associated Papers

Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.

Del Roio Liberatore R et al.

Diabetology & Metabolic Syndrome, 2015

Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.

Abbasi F et al.

Molecular Diagnosis & Therapy, 2012

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

Fernández-Marmiesse A et al.

Human Mutation, 2006

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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."