Varaico: Literature-Extracted Genetic Variants

Gene:RHEB
Variant:p.S68P
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RHEB

NM_005614.4:p.S68P

Associated Papers

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

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

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM18_ESM.xlsx › Mutation

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."