Varaico: Literature-Extracted Genetic Variants

Gene:NACC2
Variant:p.P579L
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NACC2

NM_144653.5:p.P579L

Associated Papers

A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.

Tuncer FN et al.

Epilepsy Research, 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."