Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1420fs
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TSC2

NM_000548.5:p.S1420fs

Associated Papers

[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].

Huang C

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2016

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND et al.

Human Mutation, 2005

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."