Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P590delFs
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TSC1

NM_000368.5:p.P590delFs

Associated Papers

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.

Praticò AD et al.

Scientific Reports, 2025

40579409 (PubMed )
Supplement: 41598_2025_4718_MOESM1_ESM.xlsx › Foglio1

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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