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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.E96_A97delFs

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TSC2

NM_000548.5:p.E96_A97delFs

hg38:chr16:2053401 GGAGGC>G

Associated Papers

Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Milon V et al.

European Journal of Human Genetics : Ejhg, 2024

38806662 (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."