Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R54H
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KCNJ11

NM_000525.4:p.R54H

Associated Papers

Diabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features.

Sechko EA et al.

Frontiers in Endocrinology, 2025

Ligand-mediated Structural Dynamics of a Mammalian Pancreatic KATP Channel.

Sung MW et al.

Journal of Molecular Biology, 2022

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

Arya VB et al.

European Journal of Endocrinology, 2014

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR et al.

European Journal of Endocrinology, 2013

23345197 (PubMed )
Supplement: supp_EJE-12-0673_EJE_120673_Suppl_Table.pdf
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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."