Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.G146A
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KCNJ2

NM_000891.3:p.G146A

Associated Papers

Inward rectifier potassium (Kir) channels in the retina: living our vision.

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

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

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.

Barajas-Martinez H et al.

Circulation. Cardiovascular Genetics, 2011

Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome.

Kim JB et al.

Pediatric Neurology, 2009

[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].

Márquez MF et al.

Archivos De Cardiologia De Mexico, 0

Andersen-Tawil Syndrome: A Comprehensive Review.

Pérez-Riera AR et al.

Cardiology in Review, 0

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