Last Updated: 09/26/2026
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Found 2 publications
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Journal: Brain : a journal of neurology
Published: October 03, 2024
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.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
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Last Updated: 09/26/2026