| 1 | CLCN6, DDHRND
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| A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration
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| Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ
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| Am J Hum Genet. Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. 2020
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| 2 | CLCN6, MYH1
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| Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
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| Wang Y, Du X, Bin R, Yu S, Xia Z, Zheng G, Zhong J, Zhang Y, Jiang YH, Wang Y.
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| Sci Rep. Jan 11;7:40319. doi: 10.1038/srep40319. 2017
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| 3 | CLCN6, PDE4C
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| DNA methylation levels at individual age-associated CpG sites can be indicative for life expectancy.
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| Lin Q, Weidner CI, Costa IG, Marioni RE, Ferreira MR, Deary IJ, Wagner W.
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| Aging (Albany NY). Feb;8(2):394-401. doi: 10.18632/aging.100908. 2016
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| 4 | CLCN6, CLCN7
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| The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
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| Neagoe I, Stauber T, Fidzinski P, Bergsdorf EY, Jentsch TJ.
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| J Biol Chem. Jul 9;285(28):21689-97. doi: 10.1074/jbc.M110.125971. Epub 2010 May 13 2010
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| 5 | CLCN6
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| Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
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| Poet M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hubner CA, Jentsch TJ.
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| Proc Natl Acad Sci U S A 103(37):13854-9. Epub 2006 Sep 1. 2006
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| 6 | CLCN6, MTHFR
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| The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene.
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| Gaughan DJ, Barbaux S, Kluijtmans LA, Whitehead AS.
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| Gene 257(2):279-89. 2000
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| 7 | CLCN6, CLCN7
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| Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1).
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| Kornak U, Bosl MR, Kubisch C.
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| Biochim Biophys Acta 1447(1):100-6 1999
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| 8 | CLCN6
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| Alternative splicing of ClC-6 (a member of the CIC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific.
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| Eggermont J, Buyse G, Voets T, Tytgat J, De Smedt H, Droogmans G, Nilius B.
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| Biochem J 325 ( Pt 1):269-76. 1997
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| 9 | CLCN6, CLCN7, CLCN8, CLIC1, HTR3B, KCNAB1, KCNB1, KCNJ1, KCNJ2, KCNJ3, KCNJ5, KCNMA1
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| Chromosomal localization of 15 ion channel genes.
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| Russell MWW, et al.
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| Somat Cell Mol Genet 22 : 425-431. 1996
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| 10 | CLCN6, CLCN7
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| CIC-6 and CIC-7 are two novel broadly expressed members of the CLC chloride channel family.
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| Brandt S, et al.
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| FEBS Lett 377 : 15-20. 1995
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