Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.T521insFs
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TSC2

NM_000548.5:p.T521insFs

Associated Papers

Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.

Muhtaseb AW et al.

Schizophrenia Research, 2024

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2

Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation.

Alsaqati M et al.

Molecular Autism, 2020

Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models.

Nadadhur AG et al.

Stem Cell Reports, 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."