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Identification of novel genes by targeted exome sequencing in Retinoblastoma.

Ophthalmic genetics - 1 Dec 2022

Bisht Shilpa, Chawla Bhavna, Kumar Amit, Vijayan Viswanathan, Kumar Manoj, Sharma Pradeep, Dada Rima

Abstract excerpt

BACKGROUND: Retinoblastoma (RB) is initiated by mutation in both alleles of RB1 gene. However, few cases may occur even in the absence of RB1 mutation suggesting the role of genes other than RB1. METHODOLOGY: The current study was planned to utilize targeted exome sequencing in Indian RB patients affected with unilateral non-familial RB. 75 unilateral RB patients below 5 years of age were enrolled. Genomic DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35930312
DOI: 10.1080/13816810.2022.2106497

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