Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.N1720_M1721Splc
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TSC2

NM_000548.5:p.N1720_M1721Splc

Associated Papers

Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.

Li S et al.

Oncology Letters, 2017

High-resolution melting analysis is a more effective approach for screening TSC genes mutations.

Tsai TS et al.

Genetic Testing and Molecular Biomarkers, 2011

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Hung CC et al.

Bmc Medical Genetics, 2006

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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."