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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PALB2

Variant:p.C933F

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PALB2

NM_024675.4:p.C933F

hg38:chr16:23624045 C>A

Associated Papers

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Boonen RACM et al.

Nature Communications, 2026

41554690 (PubMed )

Supplement: 41467_2025_67252_MOESM6_ESM.xlsx › SpliceAI_CC_and_WD40

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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."