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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC1

Variant:p.K221_P222Splc

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TSC1

NM_000368.5:p.K221_P222Splc

hg38:chr9:132921446 T>G

Associated Papers

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C et al.

Plos One, 2017

28968464 (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."