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Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All patients underwent thorough ophthalmological examinat...

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Detalles Bibliográficos
Autores principales:	Bodenbender, Jan-Philipp, Marino, Valerio, Bethge, Leon, Stingl, Katarina, Haack, Tobias B., Biskup, Saskia, Kohl, Susanne, Kühlewein, Laura, Dell’Orco, Daniele, Weisschuh, Nicole
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9916573/ https://www.ncbi.nlm.nih.gov/pubmed/36769033 http://dx.doi.org/10.3390/ijms24032709

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