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Silva IAL, Conceição N, Gagnon E, et al. Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2018;1864(1):143 - 151. doi:10.1016/j.bbadis.2017.10.008
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Michou L, Conceição N, Morissette J, et al. Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. Bone. 2012;51(4):720-8. doi:10.1016/j.bone.2012.06.028
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Silva IAL, Conceição N, Gagnon E, Brown JP, M. Cancela L, Michou L. Molecular effect of an OPTN common variant associated to Paget's disease of bone. PLOS ONE. 2018;13(5):e0197543. doi:10.1371/journal.pone.0197543.s007