Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.N1720_M1721Splc
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TSC2

NM_000548.5:p.N1720_M1721Splc

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Clinical Implications of Solitary Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis Complex: Case Series and Comprehensive Literature Review.

Gallus S et al.

Journal of Pediatric Hematology/oncology, 2025

Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.

Farcaş M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma.

Sasaki T et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022

Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.

Jia B et al.

Frontiers in Oncology, 2022

36741696 (PubMed )
Supplement: DataSheet_1.zip › Supplemental_Table_S2.xlsx › Sheet1
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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."