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Novel De novo mutations in <i>KIF1A<\/i> as a cause of hereditary spastic paraplegia with progressive central nervous system involvement. J Child Neurol 31: 1114-1119, 2016.","DOI":"10.1177\/0883073816639718"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Tomaselli PJ, Rossor AM, Horga A, et al. A <i>de novo<\/i> dominant mutation in <i>KIF1A<\/i> associated with axonal neuropathy, spasticity and autism spectrum disorder. J Peripher Nerv Syst 22: 460-463, 2017.","DOI":"10.1111\/jns.12235"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760, 2009.","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Li H, Handsaker B, Wysoker A, et al. The sequence alignment\/map format and SAMtools. 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