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Article

Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).

Journal of neuromuscular diseases - 1 Jan 2020

Savarese Marco, Qureshi Talha, Torella Annalaura, Laine Pia, Giugliano Teresa, Jonson Per Harald, Johari Mridul, Paulin Lars, Piluso Giulio, Auvinen Petri, Nigro Vincenzo, Udd Bjarne, Hackman Peter

Abstract excerpt

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...

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PMID: 32597815
DOI: 10.3233/JND-200523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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