RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

Authors: Moreno-Leon, Laura, West, Emma L, O'Hara-Wright, Michelle, Li, Linjing, Nair, Rohini, He, Jie, Anand, Manisha, Sahu, Bhubanananda, Chavali, Venkat Ramana Murthy, Smith, Alexander J, Ali, Robin R, Jacobson, Samuel G, Cideciyan, Artur V, Khanna, Hemant

Source: Human molecular genetics. 29(22):3706-3716

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