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Long-read sequencing identifies GGC repeat expansion in human-specific NOTCH2NLC associated with neuronal intranuclear inclusion disease

2019-01-09

Abstract excerpt

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The wide range of clinical manifestations in NIID makes ante-mortem diagnosis difficult 1–8 , but skin biopsy realized its ante-mortem diagnosis 9,10 and many NIID cases have been diagnosed by skin biopsy 11,12 . Most cases of NIID...

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Literature Corpus work: 34634588-756f-5831-bd58-c66e6f51eef5
DOI: 10.1101/515635

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Long-read sequencing identifies GGC repeat expansion in human-specific <i>NOTCH2NLC</i> associated with neuronal intranuclear inclusion disease

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