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Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 13312 - 12
Inherited Retinal Dystrophies are clinically and genetically heterogeneous disorders affecting the photoreceptors. Although NGS has shown to be helpful for the... 
POPULATION | DEEP-INTRONIC MUTATION | TRANSPORTER GENE | MULTIDISCIPLINARY SCIENCES | DISEASE | HIGH-FREQUENCY | PHENOTYPE | COPY-NUMBER VARIATIONS | GENOME | DOMINANT RETINITIS-PIGMENTOSA | DEGENERATION | USH2A protein | Clonal deletion | Exons | Genes | Retina | Photoreceptors | Diagnosis | Mutation
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