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Infantile onset spinocerebellar ataxia is caused by recessive mutations inmitochondrial proteins Twinkle and Twinky.
Kaisu Nikali, Anu Suomalainen, Juha Saharinen, Mikko Kuokkanen, Johannes N Spelbrink, Johannes N Spelbrink, Leena Peltonen
Human Molecular Genetics 2006; 14(20):2981-2990
ICID: 467989
IC™ Value: 17.76
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