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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

机译：191个发育和癫痫性脑病相关基因的重新注释揭示了SCN1A中的从头变异

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Expression of transcripts. Cumulative distribution curves for the number of intron-supporting reads in pre-existing (GENCODE v20) versus updated (GENCODE v28) annotation. Distribution curves for overall transcripts, CDS, 5′ and 3′ UTR are given. The -axis is in log10 scale.

机译：成绩单的表达。预先存在的（GENCODE v20）与更新的（GENCODE v28）注释中支持内含子的读段数量的累积分布曲线。给出了全部成绩单，CDS，5'和3'UTR的分布曲线。 -轴的单位为log10。

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期刊名称 NPJ Genomic Medicine
作者
Charles A. Steward; Jolien Roovers; Marie-Marthe Suner; Jose M. Gonzalez; Barbara Uszczynska-Ratajczak; Dmitri Pervouchine; Stephen Fitzgerald; Margarida Viola; Hannah Stamberger; Fadi F. Hamdan; Berten Ceulemans; Patricia Leroy; Caroline Nava; Anne Lepine; Electra Tapanari; Don Keiller; Stephen Abbs; Alba Sanchis-Juan; Detelina Grozeva; Anthony S. Rogers; Mark Diekhans; Roderic Guigó; Robert Petryszak; Berge A. Minassian; Gianpiero Cavalleri; Dimitrios Vitsios; Slavé Petrovski; Jennifer Harrow; Paul Flicek; F. Lucy Raymond; Nicholas J. Lench; Peter De Jonghe; Jonathan M. Mudge; Sarah Weckhuysen; Sanjay M. Sisodiya; Adam Frankish;
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年(卷),期 2019(4),-1
年度 2019
页码 -1
总页数 11
原文格式 PDF
正文语种
中图分类生化遗传学;生化药理学;
关键词
Molecular medicine; Medical genomics;

机译：分子医学;医学基因组学;

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专利

1. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A [J] . Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, NPJ genomic medicine. . 2019,第1期

机译：重新注释191种发育和癫痫脑病相关基因Unmasks de Novo变种在SCN1A中
2. Damaging de novo missense variants in EEF1A2 EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy [J] . Carvill Gemma L., Helbig Katherine L., Myers Candace T., Human mutation . 2020,第7期

机译：损伤ef1a2 ef1a2中的脱诺畸形变种导致发育和退化的癫痫感染性脑膜病变
3. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis [J] . Heather E. Olson, Nolwenn Jean-Mar?ais, Edward Yang, The American Journal of Human Genetics . 2018,第5期

机译：一种反复性De Novo PACS2杂合的畸形变体导致新生儿发病发育癫痫脑病，面部疑难垂和小脑功能因子
4. Time-variant Epileptic Brain Functional Connectivity of Focal and Generalized Seizure in Chronic Temporal Lobe Epilepsy Rat* [C] . Yufang Yang, Fang Zhang, Junming Zhu, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2020

机译：慢性颞叶癫痫大鼠的时变癫痫脑功能连接性和广泛性发作*
5. Phenotype to genotype: Genetic variants of SCN1A and Dkk1 [D] . MacDonald, Bryan Thomas 2004

机译：表型到基因型：SCN1A和Dkk1的遗传变异
6. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy Facial Dysmorphism and Cerebellar Dysgenesis [O] . Heather E. Olson, Nolwenn Jean-Marçais, Edward Yang, 2018

机译：复发性De Novo PACS2杂合性错义变异导致新生儿发作的发育性癫痫性脑病面部畸形和小脑发育不全。
7. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A [O] . Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, 2019

机译：重新注释191种发育和癫痫脑病相关基因Unmasks de Novo变种在SCN1A中

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

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