Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.A195V
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KCNJ1

NM_153766.3:p.A195V

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Channelopathies of inwardly rectifying potassium channels.

Abraham MR et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1999

The molecular genetic approach to "Bartter's syndrome".

Károlyi L et al.

Journal of Molecular Medicine (berlin, Germany), 1998

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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."