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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHEK2

Variant:p.V25L

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CHEK2

NM_007194.4:p.V25L

hg38:chr22:28734649 C>G

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

Functional analysis of clinical BARD1 germline variants.

Toh MR et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371347 (PubMed )

Supplement: supp_mcs.a004093_Supplemental_Materials.docx

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