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Targeted long-read RNA sequencing reveals the complexity of <i>CLN3</i> transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease

2025-04-24

Abstract excerpt

Most genes are not yet fully annotated, and the extent of their transcript diversity and the roles and significance of specific isoforms is not understood. This information is therefore lacking for disease genes. The CLN3 gene underlies classic juvenile CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis, a rare paediatric neurodegenerative disorder. The most common cause of this biallelic disorde...

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Literature Corpus work
ad2de567-f98c-5525-bec5-f0a3888b435c
DOI
10.1101/2025.04.24.650398
Open publication

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Targeted long-read RNA sequencing reveals the complexity of <i>CLN3</i> transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 diseaseDOI 10.1101/2025.04.24.650398
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