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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRCA1

Variant:p.N824_K830delins

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BRCA1

NM_007294.4:p.N824_K830delins

hg38:chr17:43093041 CTTAAAGCCTTCTGTGTCA>ATAC

Associated Papers

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.

Sen S et al.

Frontiers in Genetics, 2025

40385982 (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."