Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q503delFs
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TSC2

NM_000548.5:p.Q503delFs

Associated Papers

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC et al.

American Journal of Human Genetics, 1999

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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."