| 1 | POMGNT1, RP76 |
| Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. | |
| Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT. | |
| Invest Ophthalmol Vis Sci 57(8):3601-9. doi: 10.1167/iovs.16-19463. 2016 | |
| 2 | POMGNT1, RP76 |
| Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. | |
| Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. | |
| Hum Mol Genet 25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28. 2016 | |