Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
Perreault-Micale C et al.
Molecular Genetics & Genomic Medicine, 2015
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Ben Salah G et al.
Molecular Biology Reports, 2014
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
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