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A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy

Stargardt macular dystrophy is a genetic disorder, but in many cases, the causative gene remains unrevealed. Through a combined approach (whole-exome sequencing and phenotype/family-driven filtering algorithm) and a multilevel validation (international database searching, prediction scores calculati...

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Detalles Bibliográficos
Autores principales:	Zampatti, Stefania, Peconi, Cristina, Calvino, Giulia, Ferese, Rosangela, Gambardella, Stefano, Cascella, Raffaella, Sebastiani, Jacopo, Falsini, Benedetto, Cusumano, Andrea, Giardina, Emiliano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454646/ https://www.ncbi.nlm.nih.gov/pubmed/37628710 http://dx.doi.org/10.3390/genes14081659

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