GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Additionally, our analyses of the retina of mice expressing a GPATCH11 protein analogous to the human mutant variant -which faithfully recapitulated the retinal disease and the neurological abnormalities associated with human GPATCH11 mutations- unveiled highly significant splicing abnormalities.

also in 132,142 other papers