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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.Q371delFs

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TSC2

NM_000548.5:p.Q371delFs

hg38:chr16:2060806 AG>A

Associated Papers

Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia.

Hadjigavriel G et al.

Epigenomes, 2025

40558831 (PubMed )

TSC complex decrease the expression of mTOR by regulated miR-199b-3p.

Zhao N et al.

Scientific Reports, 2025

39806027 (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."