Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human genetics, HGMD has established itself as the central core database of inherited human gene mutations.doi:10.1007/0-306-46903-0_9Michael Krawczak...
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: ...
hgmdgenemutationdatabasehgvsmutations HGMD®–TheHumanGeneMutationDatabaseHowtoMakeSearchesinHGMD®ProfessionalRelationalDatabaseVersion2014.2CommonSQLQueriesintheHGMD®ProfessionalMySQLdatabase•Thetablesallgenesandallmutcontaindataforeasyqueryingofgenesandmutations,respectively.Thecontentinthesetablesisextractedfr...
GeneCards – the human gene database 来自 mendeley.com 喜欢 0 阅读量: 116 作者: Safran,Rosen,BarShir 展开 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, ...
That’s key, because very few diseases directly stem from a single gene mutation. Most common illnesses—like heart disease, diabetes, depression and cancer—likely result from the interaction of several genes, as well as environmental factors.This addition to UK Biobank’s database also promises...
We searched the Human Gene Mutation Database (HGMD)27 and ClinVar28 for uORF-creating or uORF-disrupting variants, identifying 39 uAUG-creating and four stop-removing (likely) pathogenic/disease mutations in 37 different genes. All four stop-removing variants disrupt uORFs with uAUGs in a stro...
Genew: the human gene nomenclature database, 2004 updates. Nucleic Acids Res. 32, D255–257 (2004). Article CAS PubMed PubMed Central Google Scholar Robinson, J. et al. IMGT/HLA and IMGT/MHC: sequence databases for the study of the major histocompatibility complex. Nucleic Acids Res. 31...
NBDC human database (accession ID: JGAS000114) is available from https://humandbs.biosciencedbc.jp/en/. STRING functional protein association networks are available from https://string-db.org/. NFE summary statistics are from ftp://ftp.sanger.ac.uk/pub/project/humgen/summary_statistics/human...
human survival and development. On September 30, 2020, at the United Nations Summit on Biodiversity, Chinese President Xi Jinping pointed out that the whole of humanity needs to take on its pressing responsibilities, find a way...
L. et al. Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics 27, 67–82 (1995). Article CAS PubMed Google Scholar Rowen, L., Koop, B. F. & Hood, L. The complete 685-kilobase DNA sequence of the...