Varaico: Literature-Extracted Genetic Variants

Gene:RHEB
Variant:p.E40V
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RHEB

NM_005614.4:p.E40V

Associated Papers

L1 Cell Adhesion Molecule (L1CAM) Expression and Molecular Alterations Distinguish Low-Grade Oncocytic Tumor From Eosinophilic Chromophobe Renal Cell Carcinoma.

Alghamdi M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

Mayo S et al.

International Journal of Molecular Sciences, 2022

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

Lee WS et al.

International Journal of Molecular Sciences, 2022

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.

Lee WS et al.

Annals of Clinical and Translational Neurology, 2021

The odyssey of complex neurogenetic disorders: From undetermined to positive.

Salinas V et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S et al.

Acta Neuropathologica, 2019

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

Salinas V et al.

European Journal of Medical Genetics, 2019

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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."