Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.W1430fs
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TSC2

NM_000548.5:p.W1430fs

Associated Papers

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

Spanou M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

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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."