The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification.
作者信息
Ducich Nicole, Ah Mew Nicholas, Bedoyan Jirair K
机构信息
School of Medicine, Case Western Reserve University (CWRU), Cleveland, OH, USA.
Children's National Rare Disease Institute, The George Washington University, Washington, DC, USA.
出版信息
Mol Genet Metab Rep. 2020 May 8;23:100598. doi: 10.1016/j.ymgmr.2020.100598. eCollection 2020 Jun.
Abstract
摘要
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Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.伴 OTC 缺陷杂合女性肝中 X 染色体失活的可变性和中央区谷氨酰胺合成酶区的扩大。
Virchows Arch. 2018 Jun;472(6):1029-1039. doi: 10.1007/s00428-018-2345-x. Epub 2018 Apr 6.
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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
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