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

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...

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Detalles Bibliográficos
Autores principales: Kamenarova, Kunka, Mihova, Kalina, Veleva, Nevyana, Mermeklieva, Elena, Mihaylova, Bilyana, Dimitrova, Galina, Oscar, Alexander, Shandurkov, Iliyan, Cherninkova, Sylvia, Kaneva, Radka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356554/
https://www.ncbi.nlm.nih.gov/pubmed/35656873
http://dx.doi.org/10.1002/mgg3.1997

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