Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R945Splc
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PALB2

NM_024675.4:p.R945Splc

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_

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › PVs

Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Li DY et al.

Frontiers in Oncology, 2021

34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information

Targeted next-generation sequencing-based sequencing of cell-free DNA in cerebrospinal fluid uncovers cancer-specific mutations in patients with brain cancer using a widely available panel.

Köpp A et al.

Neuro-oncology Advances, 0

41664825 (PubMed )
Supplement: vdaf270_supplementary_data.zip › Table_S2.xlsx › Variants_Blood_and_CSF
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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."