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Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing

PURPOSE: Retinoblastoma (RB) is a pediatric ocular malignancy due to biallelic inactivation of the RB1 gene. Genetic testing is critically important for treatment decisions for this disease. Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for discovering a...

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Vydáno v:Mol Vis
Hlavní autoři: Zou, Yihua, Li, Jiakai, Hua, Peiyan, Liang, Tingyi, Ji, Xunda, Zhao, Peiquan
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2021
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7803294/
https://ncbi.nlm.nih.gov/pubmed/33456302
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