Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.E481_E482Splc
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TSC2

NM_000548.5:p.E481_E482Splc

Associated Papers

A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.

Abdelwahed M et al.

Iubmb Life, 2019

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

Nadadhur AG et al.

Stem Cell Reports, 2019

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities.

Li Y et al.

Stem Cell Reports, 2017

Neural Stem Cell Dysfunction in Human Brain Disorders.

Liszewska E et al.

Results and Problems in Cell Differentiation, 0

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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."