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Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients

PURPOSE: Modern molecular genetics has revolutionized gene discovery, genetic diagnoses, and precision medicine yet many patients remain unable to benefit from these advances as disease-causing variants remain elusive for up to half of Mendelian genetic disorders. Patient-derived induced pluripotent...

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Detalles Bibliográficos
Autores principales:	Matynia, Anna, Wang, Jun, Kim, Sangbae, Li, Yumei, Dimashkie, Anupama, Jiang, Zhichun, Hu, Jane, Strom, Samuel P., Radu, Roxana A., Chen, Rui, Gorin, Michael B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976924/ https://www.ncbi.nlm.nih.gov/pubmed/35348597 http://dx.doi.org/10.1167/tvst.11.3.33

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