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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRCA1

Variant:p.E100delFs

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BRCA1

NM_007294.4:p.E100delFs

hg38:chr17:43104868 ACT>A

Associated Papers

The Diagnostic Yield of Panel Versus Exome Sequencing to Identify Hereditary Cancer Disorders in Pediatric Cancer.

Lozinsky SM et al.

Journal of Pediatric Hematology/oncology, 2025

39899692 (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."