| 1 | CA8, CHQL3
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| Roles of carbonic anhydrase 8 in neuronal cells and zebrafish.
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| Huang MS, Wang TK, Liu YW, Li YT, Chi TH, Chou CW, Hsieh M.
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| Biochim Biophys Acta 1840(9):2829-42. doi: 10.1016/j.bbagen.2014.04.017. Epub 2014 May 1.
2014
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| 2 | CA8, CHQL1, CHQL2, CHQL3, VLDLR, WDR81
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| Neuro-ophthalmologic findings in humans with quadrupedal locomotion.
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| Sarac O, Gulsuner S, Yildiz-Tasci Y, Ozcelik T, Kansu T.
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| Ophthalmic Genet 33(4):249-52. doi: 10.3109/13816810.2012.689412. Epub 2012 Jun 11.
2012
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| 3 | CA8, CHQL3
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| Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
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| Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M.
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| Am J Med Genet B Neuropsychiatr Genet 156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2.
2011
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| 4 | CA8, CHQL3
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| CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
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| Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN.
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| PLoS Genet 5(5):e1000487. Epub 2009 May 22. 2009
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