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- [5] Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2018, 22 (03): : 1733 - 1742
- [6] A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis Japanese Journal of Ophthalmology, 2014, 58 : 528 - 535
- [9] Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations Human Genome Variation, 6