Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Foley AR, Bolduc V, Guirguis F, Donkervoort S, et al. Brain 2025 Apr 3:awaf116. doi: 10.1093.

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Foley AR, Bolduc V, Guirguis F, Donkervoort S, et al. Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Brain 2025 Apr 3:awaf116. doi: 10.1093.
PMID: 40177858