| 1 | MRAR5, TUSC3
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| Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
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| Al-Amri A, Saegh AA, Al-Mamari W, El-Asrag ME, Ivorra JL, Cardno AG, Inglehearn CF, Clapcote SJ, Ali M.
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| Am J Med Genet A 170(7):1826-31. doi: 10.1002/ajmg.a.37690. Epub 2016 May 5.
2016
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| 2 | MRAR5, TUSC3
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| Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.
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| Loddo S, Parisi V, Doccini V, Filippi T, Bernardini L, Brovedani P, Ricci F, Novelli A, Battaglia A.
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| Am J Med Genet A 161A(8):2084-7. doi: 10.1002/ajmg.a.36028. Epub 2013 Jul 4.
2013
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| 3 | MRAR5, TUSC3
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| A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
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| Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW.
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| Am J Med Genet A 155A(8):1976-80. doi: 10.1002/ajmg.a.34077. Epub 2011 Jul 7.
2011
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| 4 | MRAR5, TUSC3
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| A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
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| Khan MA, Rafiq MA, Noor A, Ali N, Ali G, Vincent JB, Ansar M.
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| BMC Med Genet 12:56.
2011
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| 5 | TUSC3, MRAR5
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| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
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| Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L.
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| Am J Hum Genet 82(5):1150-7. Epub 2008 May 1. 2008
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| 6 | TUSC3, MRAR5
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| A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
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| Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW.
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| Am J Hum Genet 82(5):1158-64. Epub 2008 May 1. 2008
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