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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHEK2

Variant:p.R148_E149Splc

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CHEK2

NM_007194.4:p.R148_E149Splc

hg38:chr22:28725241 A>T

Associated Papers

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )

Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

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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."