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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.I610ins1

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TSC2

NM_000548.5:p.I610ins1

hg38:chr16:2070560 G>GAGC

Associated Papers

Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

Nellist M et al.

European Journal of Human Genetics : Ejhg, 2005

15483652 (PubMed )

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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."