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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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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Dan, Handong, Huang, Xin, Xing, Yiqiao, Shen, Yin
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057118/
https://ncbi.nlm.nih.gov/pubmed/31960602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1131
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