Varaico: Literature-Extracted Genetic Variants

Gene:RHEB
Variant:p.Y35delins
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RHEB

NM_005614.4:p.Y35delins

Associated Papers

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

Lee WS et al.

Neurology, 2023

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

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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."