| 1 | HDL2, JPH3
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| Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.
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| Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL.
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| Ann Neurol 61(3):272-82.
2007
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| 2 | HDL2, JPH3
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| CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
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| Stevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dode C, Hahn-Barma V, Ross CA, Margolis RL, Durr A, Brice A.
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| Neurology 58(6):965-7. 2002
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| 3 | HDL2, JPH3
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| A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
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| Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL.
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| Nat Genet 29(4):377-8. 2001
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| 4 | JPH1, JPH2, JPH3
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| Junctophilins: a novel family of junctional membrane complex proteins.
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| Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K.
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| Mol Cell 6(1):11-22. 2000
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| 5 | JPH1, JPH2, JPH3
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| Characterization of human junctophilin subtype genes.
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| Nishi M, Mizushima A, Nakagawara Ki, Takeshima H.
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| Biochem Biophys Res Commun 273(3):920-7. 2000
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| 6 | ATXN2, BHLHE22, CASK, CELF3, CNPY3, EP400, FOXP2, JPH3, KMT2D, MAGI1, MAML3, MED12, MED15, NUMBL, PAXIP1, TNRC15, TNRC17, TNRC18, TNRC6A, TOX3, ZNF384
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| cDNAs with long CAG trinucleotide repeats from human brain.
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| Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA.
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| Hum Genet 100(1):114-22. 1997
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