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Article

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

13 Dec 2018

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the enormous genetic heterogeneity of diverse retinal dystrophies, including RP. To identify disease-causing mutations in unselected, consecutive RP patients, we...

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PMID: 30543658
DOI: 10.1371/journal.pone.0207958

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