Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.F58S
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KCNJ2

NM_000891.3:p.F58S

Associated Papers

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.

Boulmpou A et al.

Journal of Personalized Medicine, 2025

40137421 (PubMed )
Supplement: jpm-15-00105-s001.zip › Supplementary_Table_S2_-_Case_reports_OK.pdf

The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues.

Li E et al.

Naunyn-schmiedeberg's Archives of Pharmacology, 2024

Potassium channels and autism spectrum disorder: An overview.

Cheng P et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.

Binda A et al.

Frontiers in Cellular Neuroscience, 2018

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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."