1 | IDH3A, RP90
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| A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
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| Peter VG, Nikopoulos K, Quinodoz M, Granse L, Farinelli P, Superti-Furga A, Andréasson S, Rivolta C.
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| Ophthalmic Genet. Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23. 2019
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2 | IDH3A, RP90
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| Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
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| Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM
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| Ophthalmology Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13 2017
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3 | IDH3A
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| Cerebrospinal fluid metabolomics identifies a key role of isocitrate dehydrogenase in bipolar disorder: evidence in support of mitochondrial dysfunction hypothesis.
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| Yoshimi N, Futamura T, Bergen SE, Iwayama Y, Ishima T, Sellgren C, Ekman CJ, Jakobsson J, Pålsson E, Kakumoto K, Ohgi Y, Yoshikawa T, Landén M, Hashimoto K.
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| Mol Psychiatry. Nov;21(11):1504-1510. doi: 10.1038/mp.2015.217. Epub 2016 Jan 19 2016
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4 | IDH3A, IDH3B
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| Identification and functional characterization of a novel, tissue-specific NAD(+)-dependent isocitrate dehydrogenase beta subunit isoform.
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| Kim YO, Koh HJ, Kim SH, Jo SH, Huh JW, Jeong KS, Lee IJ, Song BJ, Huh TL.
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| J Biol Chem 274(52):36866-75. 1999
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5 | IDH3A
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| Assignment of the human mitochondrial NAD+-specific isocitrate dehydrogenase alpha subunit (IDH3A) gene to 15q25.1-q25.2 by in situ hybridization.
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| Huh TL, et al.
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| Genomics 31 : 295-296. 1996
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6 | IDH2, IDH3A
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| Assignment of the human mitochondrial NADP+-specific isocitrate dehydrogenase (IDH2) gene to 15q26.1 by in situ hybridization.
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| Oh IU, et al.
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| Genomics 38 : 104-106. 1996
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7 | IDH3A
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| Characterization of a cDNA clone for human NAD+ -specific isocitrate dehydrogenase alpha-subunit and structural comparison with its isoenzymes from different species.
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| Kim YO, et al.
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| Biochem J 308 : 63-68. 1995
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