Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.R422Q
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DEPDC5

NM_001242896.3:p.R422Q

Associated Papers

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

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

Marsan E et al.

Neuropathology and Applied Neurobiology, 2018

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

D'Gama AM et al.

Annals of Neurology, 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."