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NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.
Sone J, Ueno S, Akagi A, Miyahara H, Tamai C, Riku Y, Yabata H, Koizumi R, Hattori T, Hirose H, Koyanagi Y, Kobayashi R, Okada H, Kishimoto Y, Hashizume Y, Sobue G, Yoshida M, Iwasaki Y. Sone J, et al. Among authors: hashizume y. Acta Neuropathol Commun. 2023 May 2;11(1):71. doi: 10.1186/s40478-023-01564-3. Acta Neuropathol Commun. 2023. PMID: 37131242 Free PMC article.
539 results