Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P602fs
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TSC1

NM_000368.5:p.P602fs

Associated Papers

Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.

Kútna V et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Bongaarts A et al.

Oncotarget, 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."