Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L1676P
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TSC2

NM_000548.5:p.L1676P

Associated Papers

Xanthomatous giant cell renal cell carcinoma: clinicopathologic and molecular characterization of 2 additional cases with biallelic TSC2 mutations.

Chen Q et al.

American Journal of Clinical Pathology, 2025

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.

Kim YG et al.

European Journal of Human Genetics : Ejhg, 2025

40702147 (PubMed )
Supplement: 41431_2025_1911_MOESM2_ESM.xlsx › Supplementary_table

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 › TSC2

Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.

Siroky BJ et al.

The Journal of Pediatrics, 2017

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