Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R945T
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PALB2

NM_024675.4:p.R945T

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 › CC_and_WD40__0.5_

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Leman R et al.

Human Mutation, 2022

36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1

Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

Valenzuela-Palomo A et al.

The Journal of Pathology, 2022

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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."