Varaico: Literature-Extracted Genetic Variants

Gene:RHEB
Variant:p.P37L
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RHEB

NM_005614.4:p.P37L

Associated Papers

Characterization and application of hyperthermia-evoked seizures in a mouse model of focal cortical dysplasia.

Zhang X et al.

Biorxiv : the Preprint Server for Biology, 2025

Seizure occurrence in FCD type II is predicted by lesion position and linked to cytoarchitectural alterations.

Procházková N et al.

Acta Neuropathologica Communications, 2025

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

Trujillo-Quintero JP et al.

Clinical Genetics, 2025

The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development.

Ma Q et al.

Genes & Diseases, 2024

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

Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.

Lee WS et al.

Neurology, 2023

Development of a versatile HPLC-based method to evaluate the activation status of small GTPases.

Araki M et al.

The Journal of Biological Chemistry, 2021

RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.

Proietti Onori M et al.

Plos Biology, 2021

Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Nguyen LH et al.

Frontiers in Neuroanatomy, 2021

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

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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."