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. 2015 Aug 3;5:12679. doi: 10.1038/srep12679

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Sequencing chromatograms from a female carrier (top), an affected male (middle) and a normal individual (bottom) in each family. Mutations in NYX were identified in each of two families: c. 371_377delGCTACCT in the family CSNB-01 and c.214A>C in the family CSNB-02.