Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion.
Xunde WangJulia Z XuAnna ConreyLaurel MendelsohnDaniel ShrinerMehdi PiroozniaSwee Lay Lay TheinPublished in: Journal of medical genetics (2020)
We suggest that all the reported cases of the 1393 bp HBB deletion, including the three cases here, are likely to be of the same ancestral origin.
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