| 1 | IDH3A, RP90 |
| A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa | |
| Peter VG, Nikopoulos K, Quinodoz M, Granse L, Farinelli P, Superti-Furga A, Andréasson S, Rivolta C. | |
| Ophthalmic Genet. Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23. 2019 | |
| 2 | IDH3A, RP90 |
| Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma | |
| Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM | |
| Ophthalmology Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13 2017 | |