Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Y508fs
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TSC1

NM_000368.5:p.Y508fs

Associated Papers

Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.

Park C et al.

Esmo Open, 2025

39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_1

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
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