Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.L381P
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KCNJ6

NM_002240.5:p.L381P

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

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_Gnomad_0325322.xlsx › Sheet1

Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.

Di Stefano G et al.

Cephalalgia : an International Journal of Headache, 2020

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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."