Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.I296V
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KCNJ11

NM_000525.4:p.I296V

Associated Papers

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

Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.

Lo FS

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS et al.

Annals of Medicine, 2005

Molecular genetics goes to the diabetes clinic.

Hattersley AT

Clinical Medicine (london, England), 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."