Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.E481_E482Splc
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TSC2

NM_000548.5:p.E481_E482Splc

Associated Papers

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.

Liu C et al.

Bmc Medical Genomics, 2024

Insulinoma in pediatric tuberous sclerosis complex: a case report.

Librandi K et al.

Frontiers in Pediatrics, 2023

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Qin W et al.

Human Genetics, 2010

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL et al.

American Journal of Human Genetics, 2001

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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."