Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R523fs
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CHEK2

NM_007194.4:p.R523fs

Associated Papers

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

41396600 (PubMed )
Supplement: jamanetwopen-e2549730-s002.xlsx › eTable1

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

Genomic ascertainment of CHEK2-related cancer predisposition.

Kim SY et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39371170 (PubMed )
Supplement: media-6.xlsx › Supp_Table1

UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis.

Barajas JM et al.

Haematologica, 2024

38426285 (PubMed )
Supplement: 2023_284683_BARAJAS_SUPPL.pdf

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.

Barajas JM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38014207 (PubMed )
Supplement: media-5.xlsx › Sheet1

Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Sivakumar S et al.

Nature Communications, 2022

36470901 (PubMed )
Supplement: 41467_2022_35245_MOESM4_ESM.xlsx › Supplementary_Data_17

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S12_SNV_indel

Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.

Rantapero T et al.

Genes, 2020

32183364 (PubMed )
Supplement: genes-11-00314-s001.zip › genes-736952-supplementary.xlsx › Sheet1
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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."