This variant alters protein function, but is it pathogenic?
作者信息
Pandolfo Massimo
机构信息
Department of Neurology, Hôpital Erasme and Laboratory of Experimental Neurology, Université Libre de Bruxelles, Belgium.
出版信息
Neurol Genet. 2017 Jul 14;3(4):e173. doi: 10.1212/NXG.0000000000000173. eCollection 2017 Aug.
Abstract
摘要
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2
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3
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Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.
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Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature.
BMC Neurol. 2016 Feb 6;16:19. doi: 10.1186/s12883-016-0543-1.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
6
Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.
Arch Neurol. 2012 Jun;69(6):718-22. doi: 10.1001/archneurol.2011.1048.
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