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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATM

Variant:p.S974Splc

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ATM

NM_000051.4:p.S974Splc

hg38:chr11:108271247 A>G

Associated Papers

Recombination junctions from antibody isotype switching classify immune and DNA repair dysfunction.

Vázquez García C et al.

Nature Communications, 2025

41419734 (PubMed )

Supplement: 41467_2025_67206_MOESM4_ESM.xlsx › Table_S1

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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."