Varaico: Literature-Extracted Genetic Variants

Gene:SETD1B
Variant:p.E94fs
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SETD1B

NM_001353345.2:p.E94fs

Associated Papers

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Kaschta D et al.

Genome Medicine, 2025

40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S2_Variants

Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers.

Boot A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35058360 (PubMed )
Supplement: pnas.2114024119.sd07.xlsx › Dataset.S7
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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."