Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C633_E647delFs
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ATM

NM_000051.4:p.C633_E647delFs

Associated Papers

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

Llinares-Burguet I et al.

The Journal of Pathology, 2026

41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0002-FiguresS2S3TablesS1S3-S5.docx

Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition.

Kleiblová P et al.

Folia Biologica, 2024

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