Associated Papers
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
32704157 (PubMed )
Supplement: 41598_2020_69033_MOESM4_ESM.xlsx › cds_nonsense_SNP
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
Three new BLM gene mutations associated with Bloom syndrome.
Amor-Guéret M et al.
Genetic Testing, 2008
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