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• W3036109279 abstract "Although DNA-sequencing is the most effective procedure to achieve a molecular diagnosis in genetic diseases, complementary RNA analyses are often required. Reverse-Transcription polymerase chain reaction (RT-PCR) is still a valuable option when the clinical phenotype and/or available DNA-test results address the diagnosis toward a gene of interest or when the splicing effect of a single variant needs to be assessed. We use Single-Molecule Real-Time sequencing to detect and characterize splicing defects and single nucleotide variants in well-known disease genes (DMD, NF1, TTN). After proper optimization, the procedure could be used in the diagnostic setting, simplifying the workflow of cDNA analysis." @default.
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• W3036109279 date "2020-09-18" @default.
• W3036109279 modified "2023-09-25" @default.
• W3036109279 title "Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)" @default.
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• W3036109279 doi "https://doi.org/10.3233/jnd-200523" @default.
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