Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

ανά Motta, Fabiana L., Martin, Renan P., Porto, Fernanda B. O., Wohler, Elizabeth S., Resende, Rosane G., Gomes, Caio P., Pesquero, João B., Sallum, Juliana M. F.
Τόπος έκδοσης Genes (Basel) (2019)