Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1138insFs
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TSC2

NM_000548.5:p.R1138insFs

Associated Papers

TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

Nellist M et al.

Human Molecular Genetics, 2001

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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."