Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.G105S
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CASQ1

NM_001231.5:p.G105S

Associated Papers

A Novel Nonsense Mutation in Leucine-Rich, Glioma-Inactivated-1 Gene as the Underlying Cause of Familial Temporal Lobe Epilepsy.

Kanwal S et al.

Journal of Clinical Neurology (seoul, Korea), 2018

30284771 (PubMed )
Supplement: jcn-14-591-s001.pdf
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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."