Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
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DOI: 10.1136/jmedgenet-2022-108428
Abstract: Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carriers of… read more here.
Keywords: likely pathogenic; genetically unsolved; retinitis pigmentosa; read sequencing ... See more keywords