Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q20L
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CHEK2

NM_007194.4:p.Q20L

Associated Papers

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data

Completion of Genetic Testing and Incidence of Pathogenic Germline Mutation among Patients with Early-Onset Colorectal Cancer: A Single Institution Analysis.

Storandt MH et al.

Cancers, 2023

37509234 (PubMed )
Supplement: cancers-15-03570-s001.zip › cancers-2473295-supplementary.pdf

Blood Liquid Biopsy in an Advanced Medullary Thyroid Carcinoma: A Case Study with Rearranged during Transfection Heterogeneity.

Gumà J et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

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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."