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Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.
Lahola-Chomiak AA, Footz T, Nguyen-Phuoc K, Neil GJ, Fan B, Allen KF, Greenfield DS, Parrish RK, Linkroum K, Pasquale LR, Leonhardt RM, Ritch R, Javadiyan S, Craig JE, Allison WT, Lehmann OJ, Walter MA, Wiggs JL. Lahola-Chomiak AA, et al. Hum Mol Genet. 2019 Apr 15;28(8):1298-1311. doi: 10.1093/hmg/ddy429. Hum Mol Genet. 2019. PMID: 30561643 Free PMC article.