Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L104P
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TSC2

NM_000548.5:p.L104P

Associated Papers

Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma-like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex.

Baranova K et al.

Histopathology, 2025

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2

Current Knowledge and Prospects for Renal Hemangioblastoma and Renal Cell Carcinoma with Hemangioblastoma-like Features.

Kojima F et al.

Biomedicines, 2023

Rare renal cell carcinoma with haemangioblastoma-like features and leiomyomatous stroma: report of a unique case with TSC2 and SETD2 variations.

Kong J et al.

World Journal of Surgical Oncology, 2022

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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."