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Article

Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

BMC cancer - 28 Apr 2015

Devarajan Bharanidharan, Prakash Logambiga, Kannan Thirumalai Raj, Abraham Aloysius A, Kim Usha, Muthukkaruppan Veerappan, Vanniarajan Ayyasamy

Abstract excerpt

BACKGROUND: The spectrum of RB1gene mutations in Retinoblastoma (RB) patients and the necessity of multiple traditional methods for complete variant analysis make the molecular diagnosis a cumbersome, labor-intensive and time-consuming process. Here, we have used targeted next generation sequencing (NGS) approach with in-house analysis pipeline to explore its potential for the molecular diagnosis of RB. METHODS:...

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Identifiers

PMID: 25928201
DOI: 10.1186/s12885-015-1340-8
PMCID: PMC4415345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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