Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.V594delFs
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TSC1

NM_000368.5:p.V594delFs

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

[Genetic analysis of a pedigree affected with tuberous sclerosis complex caused by a novel mutation of TSC1].

Zhang S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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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."