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- [1] A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2 Nature Genetics, 2001, 29 : 377 - 378
- [4] Huntington's disease-like 2: A new neuropsychiatric disorder caused by a CAG/CTG repeat expansion in junctophilin-3 AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 114 (07): : 731 - 732