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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Download from doi.orgRECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1
Download from doi.orgHypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
UploadPALB2 variant status in hematological malignancies – a potential therapeutic target?
UploadAnalysis of novel missense ATR mutations reveals new splicing defects underlying Seckel Syndrome
Download from api.wiley.comRNF168 and USP10 regulate topoisomerase IIα function via opposing effects on its ubiquitylation
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