Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ5
Variant:p.G347A
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KCNQ5

NM_019842.4:p.G347A

Associated Papers

Neurocardiac pathologies associated with potassium channelopathies.

Singh V et al.

Epilepsia, 2024

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.

Nappi M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

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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."