Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.G558*
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ATM

NM_000051.4:p.G558*

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM4_ESM.pdf

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.

Colombo M et al.

Frontiers in Oncology, 2023

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