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File S1 - A Novel Splice-Site Mutation in <i>ALS2</i> Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

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Supporting information, containing Table S1, Table S2 and Text S1. Table S1. 216 candidate genes for neurological diseases. Table S2. List of nonsynonymous variants identified in four exome-sequenced individuals that are rare (<1%) or absent in all 1000 genomes populations or the exome variant server database in 216 known neurological and neuromuscular disease genes. Text S1. Clinical Case Presentation. (DOCX)

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2014-12-04
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