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Case Reports
. 2020 Feb;41(1):93-95.
doi: 10.1080/13816810.2020.1723119. Epub 2020 Feb 10.

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy

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
Affiliations
Case Reports

Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy

Takaaki Hayashi et al. Ophthalmic Genet. 2020 Feb.
No abstract available

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