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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa

BACKGROUND: This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). METHODS: In total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this study. Gen...

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Detalles Bibliográficos
Autores principales:	Dan, Handong, Huang, Xin, Xing, Yiqiao, Shen, Yin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057118/ https://www.ncbi.nlm.nih.gov/pubmed/31960602 http://dx.doi.org/10.1002/mgg3.1131

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