Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1469*
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TSC2

NM_000548.5:p.S1469*

Associated Papers

Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic TSC2 mutations.

Ishikawa S et al.

Frontiers in Oncology, 2026

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf
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