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year={2011},
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journal={ARCHIVES OF DISEASE IN CHILDHOOD},
volume={96},
number={2},
pages={186-191},
document_type={Article},
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year={2008},
title={Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes},
journal={BRAIN},
volume={131},
number={},
pages={747-759},
document_type={Article},
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