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Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-02-10 , DOI: 10.1080/13816810.2020.1723119
Takaaki Hayashi 1, 2 , Satoshi Katagiri 1 , Kei Mizobuchi 1 , Kazutoshi Yoshitake 3 , Shuhei Kameya 4 , Tomokazu Matsuura 5 , Takeshi Iwata 3 , Tadashi Nakano 1
Affiliation  



中文翻译:

在患有神经元核内包涵体疾病和进行性视网膜营养不良的患者中,杂合子GGC重复扩增NOTCH2NLC。

更新日期:2020-02-10
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