Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.R375C
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KCNJ10

NM_002241.5:p.R375C

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

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

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease.

Shah KV et al.

Oto Open, 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."