Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1346*
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TSC2

NM_000548.5:p.S1346*

Associated Papers

TSC2 Mutations Were Associated with the Early Recurrence of Patients with HCC Underwent Hepatectomy.

Song K et al.

Pharmacogenomics and Personalized Medicine, 2021

Juvenile cataract in association with tuberous sclerosis complex.

Geffrey AL et al.

Ophthalmic Genetics, 2020

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

[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

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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."