Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.S1073R
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DEPDC5

NM_001242896.3:p.S1073R

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

DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.

Liu L et al.

Frontiers in Neuroscience, 2020

The landscape of epilepsy-related GATOR1 variants.

Baldassari S et al.

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

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

GATOR1 complex: the common genetic actor in focal epilepsies.

Baldassari S et al.

Journal of Medical Genetics, 2016

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

van Kranenburg M et al.

Human Mutation, 2015

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

Dibbens LM et al.

Nature 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."