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Article

RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2023

Ludwig Karissa, Wu Zenghui, Bardai Ghalib, Mason Patrizia, Ward Leanne M, Moffatt Pierre, Rauch Frank

Abstract excerpt

DNA sequencing is a reliable tool for identifying genetic variants in osteogenesis imperfecta (OI) but cannot always establish pathogenicity, particularly in variants altering splicing. RNA sequencing can provide functional evidence of the effect of a variant on the transcript but requires cells expressing the relevant genes. Here, we used urine-derived cells (UDC) to characterize genetic variants in patients...

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Identifiers

PMID: 37293821
DOI: 10.1002/jbmr.4865

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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