Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.P1381insFs
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TSC2

NM_000548.5:p.P1381insFs

Associated Papers

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

Dufner-Almeida LG et al.

Genes, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.

Stoltze UK et al.

Neuro-oncology, 2023

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Stoltze UK et al.

Genome Medicine, 2023

36918911 (PubMed )
Supplement: 13073_2023_1167_MOESM2_ESM.xlsx › Table_S4_LoFP_variants

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 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."