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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRCA1

Variant:p.L147_Q148Splc

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BRCA1

NM_007294.4:p.L147_Q148Splc

hg38:chr17:43099926 T>C

Associated Papers

Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes.

Gulsuner S et al.

Genome Research, 2024

39271294 (PubMed )

Supplement: Supplemental_Tables_S1-S4.xlsx › Table_S3

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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."