Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R240delFs
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CHEK2

NM_007194.4:p.R240delFs

Associated Papers

Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.

Culliford R et al.

Nature Communications, 2024

39009593 (PubMed )
Supplement: 41467_2024_49692_MOESM4_ESM.xlsx › Supp._Data_3

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

35441217 (PubMed )
Supplement: hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx › SuppTable1A

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf
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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."