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ArticleDocumenta ophthalmologica. Advances in ophthalmology2021

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Juanita Pappalardo et al.PubMed ↗Publisher ↗

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2021
2022
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Full record →Abstract, authors, funding and every citing paper · PMID 33512609