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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.

Silvia Storoni,Sara J. E. Verdonk,Lidiia Zhytnik,Gerard Pals,Sanne Treurniet,Mariet W. Elting,Ralph J. B. Sakkers,Joost G. van den Aardweg,Elisabeth M. W. Eekhoff,Dimitra Micha

BIOMOLECULES（2023）

Cited 5|Views20
Key words
osteogenesis imperfecta,collagen type I,genetics,pathogenic variants,phenotype-genotype correlation,classification,hospital records
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