Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.R230Q
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KCNJ10

NM_002241.5:p.R230Q

Associated Papers

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

Ehtesham N et al.

Archives of Iranian Medicine, 2022

37543906 (PubMed )
Supplement: aim-25-788-s002.xlsx › Table_S1.2

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."