Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.A459fs
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CHEK2

NM_007194.4:p.A459fs

Associated Papers

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Drost M et al.

Hgg Advances, 2026

40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.

Kwong A et al.

Cancers, 2024

39272924 (PubMed )
Supplement: cancers-16-03066-s001.zip › cancers-3162067-SI.pdf

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

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