Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.R87H
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KCNJ5

NM_000890.5:p.R87H

Associated Papers

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

Clinical application of whole-exome sequencing analysis in childhood epilepsy.

Gavaz M et al.

Journal of Neurogenetics, 2024

39654149 (PubMed )
Supplement: supplement_1.xlsx › Supplementary_materials

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."