Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.A306V
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KCNJ1

NM_000220.6:p.A306V

Associated Papers

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.

García-Castaño A et al.

Scientific Reports, 2023

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."