Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R40*
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KCNJ2

NM_000891.3:p.R40*

Associated Papers

Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.

Fernandes CAH et al.

Science Advances, 2022

36149965 (PubMed )
Supplement: sciadv.abq8489_sm.pdf

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

Beverley KM et al.

American Journal of Physiology. Cell Physiology, 2022

Obstetric management of a patient with Andersen-Tawil syndrome: A case report.

Inagaki M et al.

The Journal of Obstetrics and Gynaecology Research, 2021

Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Sheffield BS et al.

Plos One, 2015

25798586 (PubMed )
Supplement: pone.0119689.s004.xlsx › Pericolic_SNVs_and_indels

Phenotype variability in patients carrying KCNJ2 mutations.

Kimura H et al.

Circulation. Cardiovascular Genetics, 2012

[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

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