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Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families

Inherited retinal dystrophies (IRDs) are a heterogeneous group of degenerative disorders of the retina. Retinitis Pigmentosa (RP) is a common type of IRD that causes night blindness and loss of peripheral vision and may progress to blindness. Mutations in more than 300 genes have been associated wit...

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Detalles Bibliográficos
Autores principales:	Tehreem, Raeesa, Chen, Iris, Shah, Mudassar Raza, Li, Yumei, Khan, Muzammil Ahmad, Afshan, Kiran, Chen, Rui, Firasat, Sabika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498396/ https://www.ncbi.nlm.nih.gov/pubmed/36140798 http://dx.doi.org/10.3390/genes13091630

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