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Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200

IMPORTANCE: SNRNP200 is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized. OBJECTIVE: To describe the retinal phenotype in patients with RP secondary to variants in SNRNP200. DESIGN, SETTING, AND P...

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Detaylı Bibliyografya
Yayımlandı:JAMA Ophthalmol
Asıl Yazarlar: Yusuf, Imran H., Birtel, Johannes, Shanks, Morag E., Clouston, Penny, Downes, Susan M., Charbel Issa, Peter, MacLaren, Robert E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Medical Association 2019
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6735424/
https://ncbi.nlm.nih.gov/pubmed/31486839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2019.3298
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