Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L1142_D1143insFs
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TSC2

NM_000548.5:p.L1142_D1143insFs

Associated Papers

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y et al.

Human Mutation, 1999

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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."