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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SET

Variant:p.P132insFs

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SET

NM_003011.4:p.P132insFs

hg38:chr9:128692882 T>TC

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 › S1_Cohort

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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."