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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

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Bibliographic Details
Title: Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Authors: Foley, A Reghan1, Bolduc, Véronique1, Guirguis, Fady1, Donkervoort, Sandra1, Hu, Ying1, Orbach, Rotem1,2, McCarty, Riley M1, Sarathy, Apurva1, Norato, Gina3, Cummings, Beryl B4, Lek, Monkol4, Sarkozy, Anna5, Butterfield, Russell J6, Kirschner, Janbernd7, Nascimento, Andrés8, Benito, Daniel Natera-de8, Quijano-Roy, Susana9, Stojkovic, Tanya10, Merlini, Luciano11, Comi, Giacomo12
Source: Brain: A Journal of Neurology; Sep2025, Vol. 148 Issue 9, p3215-3227, 13p
Database: Applied Science & Technology Source
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