| 1 | DBA14, DBA8, RPS7, TSR2
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| Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia.
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| Skorodumova LO, Davydenko KA, Filatova AY, Skoblov MY, Kulemin NA, Khadzhieva MB, Zakharova ES, Gordeeva VD, Smetanina NS, Fedyushkina IV, Anastasevich LA, Larin SS.
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| Clin Genet. Jan;103(1):93-96. doi: 10.1111/cge.14221. Epub 2022 Sep 12. 2023
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| 2 | DBA8, RPS7
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| Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
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| Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA.
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| PLoS Genet 9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31.
2013
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| 3 | DBA8, RPS7
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| Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
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| Watkins-Chow DE, Cooke J, Pidsley R, Edwards A, Slotkin R, Leeds KE, Mullen R, Baxter LL, Campbell TG, Salzer MC, Biondini L, Gibney G, Phan Dinh Tuy F, Chelly J, Morris HD, Riegler J, Lythgoe MF, Arkell RM, Loreni F, Flint J, Pavan WJ, Keays DA.
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| PLoS Genet 9(1):e1003094. doi: 10.1371/journal.pgen.1003094. Epub 2013 Jan 31.
2013
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| 4 | DBA6, DBA7, DBA8, RPL11, RPL5, RPS7
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| Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
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| Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.
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| Am J Hum Genet 83(6):769-80. 2008
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