Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations
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DOI: 10.1080/14756366.2022.2090547
Abstract: Abstract The human retinal pigment epithelium-specific 65-kDa protein (hRPE65) plays a crucial role within the retinoid visual cycle and several mutations affecting either its expression level or its enzymatic function are associated with inherited retinal… read more here.
Keywords: hrpe65 missense; potentially pathogenic; pathogenic effects; missense mutations ... See more keywords