Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2insFs
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ATM

NM_000051.4:p.S2insFs

Associated Papers

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Drost M et al.

Hgg Advances, 2026

40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.

van Engelen N et al.

Pediatric Blood & Cancer, 2025

40580017 (PubMed )
Supplement: supplement_1.docx

Mutation Status and Epithelial Differentiation Stratify Recurrence Risk in Chordoid Meningioma-A Multicenter Study with High Prognostic Relevance.

Georgescu MM et al.

Cancers, 2020

31963394 (PubMed )
Supplement: cancers-12-00225-s001.pdf
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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."