Varaico: Literature-Extracted Genetic Variants

Gene:RPS6
Variant:p.R232H
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RPS6

NM_001010.3:p.R232H

Associated Papers

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

Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex.

Gelot AB et al.

Frontiers in Neuroscience, 2020

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Pelorosso C et al.

Human Molecular 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."