Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L88_L89delFs
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TSC2

NM_000548.5:p.L88_L89delFs

Associated Papers

Identify the origin of de novo variants in TSC patients by ddPCR.

Ni K et al.

Acta Epileptologica, 2025

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Melo M et al.

International Journal of Molecular Sciences, 2025

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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."