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N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.
3
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.SNORD118基因的突变会导致伴有钙化和囊肿的脑微血管病性白质脑病。
Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.
4
Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature.伴有脑钙化和囊肿的迟发性白质脑病：病例报告及文献复习
BMC Neurol. 2016 Feb 6;16:19. doi: 10.1186/s12883-016-0543-1.
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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.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
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.伴有高乳酸水平且改善缓慢的新型婴儿期起病的白质脑病
Arch Neurol. 2012 Jun;69(6):718-22. doi: 10.1001/archneurol.2011.1048.

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.

DOI:10.1212/NXG.0000000000000173
PMID:28748215
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5511245/
Abstract
摘要