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Carla Grosmann

1PUBLICATIONS

55CO-AUTHORS

Cancer genetics

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|Apr 08, 2024

The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> 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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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

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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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