Varaico: Literature-Extracted Genetic Variants

Gene:SCAF1
Variant:p.T1183P
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SCAF1

NM_021228.3:p.T1183P

Associated Papers

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Orenstein N et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

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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."