Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.N261fs
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DEPDC5

NM_001242896.3:p.N261fs

Associated Papers

Clinical and genetic features of GATOR1 complex-associated epilepsy.

Yin K et al.

Journal of Medical Genetics, 2023

DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature.

Jesus-Ribeiro J et al.

Oxford Medical Case Reports, 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

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."