Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1751fs
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TSC2

NM_000548.5:p.R1751fs

Associated Papers

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.

Charzewska A et al.

International Journal of Molecular Sciences, 2023

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.

Salussolia CL et al.

Annual Review of Genomics and Human Genetics, 2019

Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

Overwater IE et al.

European Journal of Human Genetics : Ejhg, 2016

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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."