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Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

Pubmed ID: 
28817112
Year: 
2017
Month: 
Aug
Citation: 
Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genetics in medicine : official journal of the American College of Medical Genetics (2017) PubMed