| 1 | ATP6V1E1, CECR2, CES, SLC25A18
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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| Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
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| Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
2012
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| 2 | SLC25A18, SLC25A22
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| Mitochondrial glutamate carrier GC1 as a newly identified player in the control of glucose-stimulated insulin secretion.
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| Casimir M, Lasorsa FM, Rubi B, Caille D, Palmieri F, Meda P, Maechler P.
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| J Biol Chem 284(37):25004-14. Epub 2009 Jul 7.PMID: 19584051 2009
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| 3 | SLC25A24, SLC25A25, SLC25A23, SLC25A18
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| Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution.
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| Fiermonte G, De Leonardis F, Todisco S, Palmieri L, Lasorsa FM, Palmieri F.
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| J Biol Chem 279(29):30722-30. Epub 2004 Apr 29. 2004
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| 4 | SLC25A18
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| Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
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| Fiermonte G, Palmieri L, Todisco S, Agrimi G, Palmieri F, Walker JE.
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| J Biol Chem 277(22):19289-94. Epub 2002 Mar 15.PMID: 11897791 2002
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| 5 | ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
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| Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
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| Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
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| Genome Res 11(6):1053-70. 2001
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