1 | ARRP2, PDE6B
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| Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
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| Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S.
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| Int J Mol Sci. Feb 27;22(5):2374. doi: 10.3390/ijms22052374. 2021
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2 | ARRP2, PDE6B
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| Novel mutations in PDE6B causing human retinitis pigmentosa.
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| Cheng LL, Han RY, Yang FY, Yu XP, Xu JL, Min QJ, Tian J, Ge XL, Zheng SS, Lin YW, Zheng YH, Qu J, Gu F.
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| Int J Ophthalmol Aug 18;9(8):1094-9. doi: 10.18240/ijo.2016.08.02. 2016
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3 | ARRP2, PDE6A, PDE6B, RP43
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| Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
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| Dryja TP, et al.
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| Invest Ophthalmol Vis Sci 40(8):1859-65 1999
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4 | ARRP2, PDE6B
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| Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.
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| Piriev NI, et al.
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| Invest Ophthalmol Vis Sci 39 : 463-470. 1998
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5 | ARRP2, PDE6B
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| A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
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| Valverde D, et al.
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| Hum Genet 97 : 35-38. 1996
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6 | ARRP2, PDE6B
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| Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
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| Valverde D, et al.
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| Hum Mutat 8 : 393. 1996
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7 | ARRP2, PDE6B
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| Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
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| Danciger M, et al.
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| Genomics 30 : 1-7. 1995
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8 | ARRP2, PDE6B
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| Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.
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| Bays M, et al.
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| Hum Mutat 5 : 228-234. 1995
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9 | ARRP2, PDE6B
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| Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
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| McLaughlin ME, et al.
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| Proc Natl Acad Sci U S A 92 : 3249-3253. 1995
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10 | ARRP2
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| Mutations in the beta subunit of phosphodiesterase in patients with autosomal recessive retinitis pigmentosa.
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| McLaughlin ME, et al.
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| Invest Ophthalmol Vis Sci 34 : 1148. 1993
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11 | ARRP2, PDE6B
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| Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
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| McLaughlin ME, et al.
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| Nat Genet 4 : 130-133. 1993
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