Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Y587*
Back to variants list

TSC2

NM_000548.5:p.Y587*

Associated Papers

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

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D'Gama AM et al.

Cell Reports, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."