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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHEK2

Variant:p.R148fs

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CHEK2

NM_007194.4:p.R148fs

hg38:chr22:28725245 CCT>N

Associated Papers

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

Zemankova P et al.

Clinical Genetics, 2016

27659787 (PubMed )

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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."