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Sixty-four pathogenic variants described in the BLM gene include nucleotide insertions and deletions (41%), nonsense variants (30%), variants resulting in mis-splicing (14%), and missense variants (16%).[221,222] A specific pathogenic variant identified in the Ashkenazi Jewish population is a 6-bp deletion/7-bp insertion at nucleotide 2,281, designated as BLMASH .[223] Many of these variants result in truncation of the C-terminus, which prevents normal localization of this protein to the nucleus

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(2021, September)