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Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R, Iqbal S, Vishnopolska S, Martinez C, Dibner G, Aliano R, Zaiat J, Biagioli G, Fernandez C, Turjanski A, Campbell AJ, Mercado G, Marti MA. Mendez R, et al. Among authors: fernandez c. Ophthalmic Genet. 2021 Feb 18:1-5. doi: 10.1080/13816810.2021.1888129. Online ahead of print. Ophthalmic Genet. 2021. PMID: 33599182
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