Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L176P
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PALB2

NM_024675.4:p.L176P

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_MOESM5_ESM.xlsx › Suppl._Data_3

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S11-final_16052022.xlsx › Table_S11B

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

Li N et al.

Npj Breast Cancer, 2021

33980861 (PubMed )
Supplement: 41523_2021_255_MOESM1_ESM.pdf
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