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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.R2227_T2228del2

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ATM

NM_000051.4:p.R2227_T2228del2

hg38:chr11:108325414 TACGCAC>T

Associated Papers

Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.

Bilyalov A et al.

Cancers, 2023

38201513 (PubMed )

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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."