Schilter et al., 2015 - Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular genetics & genomic medicine   3:490-9 Full text @ Mol Genet Genomic Med
3 Genes / Markers
Marker Type Symbol Name
Gene ccdc3a coiled-coil domain containing 3a
Gene ccdc3b coiled-coil domain containing 3b
Gene optn optineurin