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Keywords: Phenotypic variability
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Journal Articles
Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M. Barnes, Joan C. Marini, Antonella Forlino
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (5): dmm049398.
Published: 16 May 2022
.... OI is characterized by a wide range of clinical outcomes, even in the presence of identical sequence variants. Given the heterotrimeric nature of collagen I, its amino acid composition and the peculiarity of its folding, several causes may underlie the phenotypic variability of OI. A deep analysis...