Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.I156M
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PALB2

NM_024675.4:p.I156M

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_middle_region

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

RECQ1 Helicase in Genomic Stability and Cancer.

Debnath S et al.

Genes, 2020

Clinical implications of germline mutations in breast cancer genes: RECQL.

Bowden AR et al.

Breast Cancer Research and Treatment, 2019

Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.

Tervasmäki A et al.

International Journal of Cancer, 2018

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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."