Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.M322fs
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TSC1

NM_000368.5:p.M322fs

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 Testing in Children with Epilepsy: Report of a Single-Center Experience.

Lee S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

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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."