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Paper Details

Biallelic frameshift variants in <i>PHLDB1</i> cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
J Med Genet
0
2023
Author NameAffiliation
Beyhan T??ys??zIstanbul University-Cerrahpasa
Kaya BilguvarYale Center for Genome Analysis, Yale School of Medicine
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Release 1.2