Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.R16H
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KCNJ11

NM_000525.4:p.R16H

Associated Papers

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Huerta-Chagoya A et al.

Nature Genetics, 2024

39379762 (PubMed )
Supplement: 41588_2024_1947_MOESM4_ESM.xlsx › T8

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
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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."