Mena Scavina
1PUBLICATIONS
55CO-AUTHORS
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Publications (1)
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|Apr 08, 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.A Reghan Foley, Véronique Bolduc, Fady Guirguis
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A Reghan Foley
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Véronique Bolduc
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Fady Guirguis
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Sandra Donkervoort
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Rotem Orbach
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Apurva Sarathy
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Gina Norato
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Beryl B Cummings
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Monkol Lek
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Anna Sarkozy
