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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHEK2

Variant:p.A94D

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CHEK2

NM_007194.4:p.A94D

hg38:chr22:28734441 G>T

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

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