Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
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DOI: 10.1002/mgg3.1997
Abstract: 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,… read more here.
Keywords: bulgarian patients; mutations bulgarian; inherited retinal; next generation ... See more keywords