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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. (2024)

First Author: Foley AR

Attributed to: Establishing a National Platform for the Development of Nucleic Acid Therapy for Rare Disease funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1101/2024.03.29.24304673

PubMed Identifier: 38585825

Publication URI: http://europepmc.org/abstract/MED/38585825

Type: Journal Article/Review

Parent Publication: medRxiv : the preprint server for health sciences