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Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Molecular genetics & genomic medicine - 1 Aug 2022

Kamenarova Kunka, Mihova Kalina, Veleva Nevyana, Mermeklieva Elena, Mihaylova Bilyana, Dimitrova Galina, Oscar Alexander, Shandurkov Iliyan, Cherninkova Sylvia, Kaneva Radka

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS)-based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS...

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PMID: 35656873
DOI: 10.1002/mgg3.1997
PMCID: PMC9356554

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