Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

已完结 10 由 su 发布于 2025/3/24 13:01:14

DOI:10.1101/gr.280060.124
作者：Merel Stemerdink, Tabea Riepe, Nick Zomer, Renee Salz, Michael Kwint, Jaap Oostrik, Raoul Timmermans, Barbara Ferrari, Stefano Ferrari, Alfredo Duenas Rey, Emma Delanote, Suzanne E de Bruijn, Hannie K
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Cold Spring Harbor Laboratory (CSH)

Abstract：Sequencing technologies have long limited the comprehensive investigation of large transcripts associated with inherited retinal diseases (IRDs) like Usher syndrome, which involves 11 associ

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