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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.A765delFs

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TSC2

NM_000548.5:p.A765delFs

hg38:chr16:2072921 GC>G

Associated Papers

Foetal cardiac rhabdomyoma due to paternal TSC1 Mutation: a case report and literature review.

Nardi E et al.

Pathologica, 2025

40205929 (PubMed )

Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.

Chen L et al.

Medicine, 2020

32871942 (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."