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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC1

Variant:p.F581fs

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TSC1

NM_000368.5:p.F581fs

hg38:chr9:132905837 GAA>N

Associated Papers

Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.

Coleman M et al.

Neurology. Genetics, 2024

38496361 (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."