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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

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Description scientific article published on 30 June 2020
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author: Isabelle Schrauwen  Stanley F Nelson  Chris Balak  Vinodh Narayanan  Szabolcs Szelinger  Steven A Moore  S Rangasamy  Matthew J Huentelman 

Publication date June 30, 2020
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