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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRCA1

Variant:p.T715S

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BRCA1

NM_007294.4:p.T715S

hg38:chr17:43093388 T>A

Associated Papers

Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.

So MK et al.

Diagnostics (basel, Switzerland), 2024

39767183 (PubMed )

Supplement: diagnostics-14-02821-s001.zip › diagnostics-3307629-supplementary_Table.xlsx › Supplementary_Table_S1

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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."