The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
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DOI: 10.1073/pnas.2115538119
Abstract: Significance Blue cone monochromacy (BCM) is an inherited retinal disorder characterized by low vision and poor color vision and caused by mutations in the multicopy gene cluster encoding the long- and middle-wavelength-sensitive cone photoreceptor visual… read more here.
Keywords: cone monochromacy; gene; blue cone; gene cluster ... See more keywords