Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.S210fs
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CHEK2

NM_007194.4:p.S210fs

Associated Papers

Germline CHEK2 mutations in patients with myeloid neoplasms.

Freiman L et al.

Leukemia, 2024

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Li J et al.

Journal of Medical Genetics, 2016

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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."