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

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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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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 187954476
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
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  Data: <searchLink fieldCode="JN" term="%22Brain%3A+A+Journal+of+Neurology%22">Brain: A Journal of Neurology</searchLink>; Sep2025, Vol. 148 Issue 9, p3215-3227, 13p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=187954476
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        Value: 10.1093/brain/awaf116
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        Text: English
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        PageCount: 13
        StartPage: 3215
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      – TitleFull: Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
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              M: 09
              Text: Sep2025
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              Y: 2025
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