Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.F197del1
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GNAO1

NM_020988.3:p.F197del1

Associated Papers

Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?

Kehrl JM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2014

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Nakamura K et al.

American Journal of Human Genetics, 2013

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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."