Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.K1088_D1089Splc
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DEPDC5

NM_001242896.3:p.K1088_D1089Splc

Associated Papers

Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review.

Zhang X et al.

Frontiers in Neurology, 2021

The landscape of epilepsy-related GATOR1 variants.

Baldassari S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

GATOR1 complex: the common genetic actor in focal epilepsies.

Baldassari S et al.

Journal of Medical Genetics, 2016

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

Ricos MG et al.

Annals of Neurology, 2016

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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."