Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Y1461delFs
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TSC2

NM_000548.5:p.Y1461delFs

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines.

He L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2020

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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."