GeneCards, the human gene compendium, enables researchers to effectively navigate and inter‐relate the wide universe of human genes, diseases, variants, proteins, cells, and biological pathways. Our recently launched Version 4 has a revamped infrastructure facilitating faster data updates, better‐...
The Human Gene Mutation Database (HGMD®) represents an attempt to collate all known gene lesions underlying human inherited disease together with disease-associated/functional polymorphisms published in the peer-reviewed literature. The mutation data catalogued by HGMD (summarised by mutation type) ar...
HGMD The Human Gene Mutation Database - BIOBASE:迄今为止人类基因突变数据库BIOBASE帮助,Human,Gene,HGMD,基因突变,数据库,gene,human,hgmd,The 文档格式: .pdf 文档大小: 1.61M 文档页数: 24页 顶/踩数: 0/0 收藏人数: 6 评论次数: 0 文档热度: ...
GeneCards – the human gene database 来自 mendeley.com 喜欢 0 阅读量: 136 作者:Safran,Rosen,BarShir 摘要: GeneCards, the human gene compendium, enables researchers to effectively navigate and inter‐relate the wide universe of human genes, diseases, variants, proteins, cells, and biological ...
HGMD The Human Gene Mutation Database - BIOBASE:迄今为止人类基因突变数据库BIOBASE 热度: cnv analysis and mutation screening indicate an important role for the npy4r gene in human obesity.cnv分析和npy4r基因突变筛查表明一个重要的角色在人类肥 ...
The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (http://www.hgmd.org). Data cataloged include single-base-pair substitutions in coding, regulatory, and splicing...
There are 1,815 genes for which biallelic pLoF variants (where both copies of a gene are likely to be inactive) are found in at least one individual in the gnomAD database, suggesting that humans can tolerate the loss of these genes or of their function. ...
Database update GeneCards Version 3: the human gene integrator GeneCards (www.genecards.org) is a comprehensive, authoritative compendium of annotative information about human genes, widely used for nearly 15 years. It... M Safran,I Dalah,J Alex,... 被引量: 39发表: 2013年...
HUMAN CELLS, GENE/PROTEIN ANTIBODIES AND VALIDATION 1. CELL ATLAS “CELL ATLAS”列出了ITGB6的基本情况,包括基因名,蛋白性质和表达形式)、转录子数等。右侧的细胞结构图展示了ITGB6蛋白在细胞内的空间分布,表达处显示为绿色。 1.1 基本信息 ITGB6为肿瘤相关基因(Cancer-related genes),疾病相关基因(Disease rela...
Although there are single-nucleotide polymorphism and human variation databases1,2, there is currently no public repository for genetic association data. It is difficult to query association data in a systematic manner or to integrate association data with other molecular databases. OMIM3, the main ...