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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.V2047_Y2049delFs

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ATM

NM_000051.4:p.V2047_Y2049delFs

hg38:chr11:108316051 CTAGTAACA>C

Associated Papers

Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.

Osler TS et al.

Cancer Medicine, 2025

40042150 (PubMed )

Supplement: CAM4-14-e70743-s001.docx

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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."