Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.D16delins
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POLE

NM_006231.4:p.D16delins

Associated Papers

Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.

Mao D et al.

Bmc Pediatrics, 2026

PolED: a manually curated database of functional studies of POLE and POLD1 variants reported in humans.

Tsarin L et al.

Database : the Journal of Biological Databases and Curation, 2025

41263451 (PubMed )
Supplement: baaf076_supplemental_files.zip › Supplementary_Table_S1.xlsx › Table_S3

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › True_negative_filtration_1
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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."