Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.D79N
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KCNJ6

NM_002240.5:p.D79N

Associated Papers

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

D'Gama AM et al.

The Lancet. Neurology, 2023

Dominant-negative mutants identify a role for GIRK channels in D3 dopamine receptor-mediated regulation of spontaneous secretory activity.

Kuzhikandathil EV et al.

The Journal of General Physiology, 2000

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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."