Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R8H
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KCNJ2

NM_000891.3:p.R8H

Associated Papers

Atypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.

Shehzad M et al.

European Journal of Case Reports in Internal Medicine, 2024

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_original_annotations_.xlsx › clinvar_result-6
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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."