Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.V504D
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TSC2

NM_000548.5:p.V504D

Associated Papers

New insights into tuberous sclerosis complex: from structure to pathogenesis.

Chen CS et al.

Frontiers in Cell and Developmental Biology, 2025

40655946 (PubMed )
Supplement: DataSheet1.pdf

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Dufner Almeida LG et al.

Human Mutation, 2020

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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."