| 1 | AP4E1
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| Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
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| Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D.
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| Am J Hum Genet 97(5):715-25. doi: 10.1016/j.ajhg.2015.10.007.
2015
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| 2 | AP4E1, SPG51
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| A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease.
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| Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S.
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| PLoS One. 8(3):e58286. 2013
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| 3 | AP4DS, AP4E1
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| Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
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| Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL.
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| J Med Genet 48(2):141-4. Epub 2010 Oct 23.
2011
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| 4 | AP4B1, AP4DS, AP4E1, AP4S1, CPSQ5, CSPQ6
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| Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
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| Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L.
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| Am J Hum Genet 88(6):788-95. Epub 2011 May 27. 2011
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| 5 | AP4E1
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| Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs).
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| Boehm M, Aguilar RC, Bonifacino JS.
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| EMBO J 20(22):6265-76.
2001
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| 6 | AP4B1, AP4E1, AP4M1, AP4S1
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| Characterization of a fourth adaptor-related protein complex.
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| Hirst J, Bright NA, Rous B, Robinson MS.
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| Mol Biol Cell 10(8):2787-802. 1999
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