Varaico: Literature-Extracted Genetic Variants

Gene:KCNH1
Variant:p.L489F
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KCNH1

NM_002238.4:p.L489F

Associated Papers

Eag1 K+ Channel: Endogenous Regulation and Functions in Nervous System.

Han B et al.

Oxidative Medicine and Cellular Longevity, 2017

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Bramswig NC et al.

Human Genetics, 2015

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Simons C et al.

Nature Genetics, 2015

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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."