Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.F552insFs
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TSC1

NM_000368.5:p.F552insFs

Associated Papers

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

Kwiatkowska J et al.

Annals of Human Genetics, 1998

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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."