| 1 | RP31, TOPORS
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| Mutations of TOPORS identified in families with retinitis pigmentosa.
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| He K, Zhou Y, Li N.
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| Ophthalmic Genet. Jun;43(3):371-377. doi: 10.1080/13816810.2022.2039721. Epub 2022 Mar 7. 2022
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| 2 | RP31, TOPORS
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| A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
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| Latasiewicz M, Salvetti AP, MacLaren RE.
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| Ophthalmic Genet. Dec;38(6):562-566. doi: 10.1080/13816810.2017.1313994. Epub 2017 Apr 28. 2017
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| 3 | RP31, TOPORS
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| Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
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| Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK.
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| Invest Ophthalmol Vis Sci. Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. 2015
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| 4 | RP31, TOPORS
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| Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
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| Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE.
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| Acta Ophthalmol 88(3):323-8. Epub 2009 Jan 30.
2010
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| 5 | RP31, TOPORS
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| Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
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| Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.
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| Mol Vis 14:922-7.
2008
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| 6 | RP31
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| A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
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| Papaioannou M, Chakarova CF, Prescott de QC, Waseem N, Theis T, Lopez I, Gill B, Koenekoop RK, Bhattacharya SS.
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| Hum Genet 118(3-4):501-3. Epub 2005 Sep 28. 2005
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