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Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Translational vision science & technology - 1 Sept 2022

Rojanaporn Duangnate, Chitphuk Sermsiri, Iemwimangsa Nareenart, Chareonsirisuthigul Takol, Saengwimol Duangporn, Aroonroch Rangsima, Anurathathapan Usanarat, Hongeng Suradej, Kaewkhaw Rossukon

Abstract excerpt

Purpose: The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) patients. The implication of germline mutation in tumor focality was also determined in this study. Methods: A stepwise method was created on the basis of "hotspot" exons analyzed using data on germline RB1 mutation in the RB1-Leiden Open Variation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36173648
DOI: 10.1167/tvst.11.9.30
PMCID: PMC9527333

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