| 1 | MOPD1, RNU4ATAC
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| Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
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| Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.
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| Clin Genet 82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.
2012
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| 2 | MOPD1, RNU4ATAC
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| Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
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| He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A.
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| Science 332(6026):238-40.
2011
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| 3 | MOPD1, RNU4ATAC
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| Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
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| Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL.
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| Science 332(6026):240-3.
2011
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| 4 | MOPD1, RNU4ATAC
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| A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
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| Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N.
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| Am J Med Genet A 155(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11.
2011
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