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英文字典中文字典相关资料:


  • DECIPHER v11. 38: Mapping the clinical genome
    DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
  • Genes with Sequence Variants - DECIPHER v11. 38
    This is a list of genes for which DECIPHER has open-access patient sequence variants, or DDD research sequence variants These pages contain information about the genes and their transcripts, matching variants recorded in open-access patients, and associated phenotypes
  • About - DECIPHER v11. 38
    You can use any of the following to search for patients and variants deposited into DECIPHER hp:0001831 by HPO Identifier Prefix the HPO ID you wish to search with hp: dendritic spines plain text search in syndrome names, descriptions, etc
  • Microsoft Word - DECIPHER-Tutorial-2015. doc
    For Sequence variants: Chromosome, Start, Reference Allele, Alternate Allele, Transcript (Ensembl or RefSeq) and assembly (GRCh37) In addition, information about inheritance, pathogenicity and contribution of variant to phenotype may also be provided Phenotype – usually the clinician will enter the patient’s phenotype selecting appropriate terms from the DECIPHER ontology selector When
  • Searching DECIPHER
    Searching DECIPHER DECIPHER has an advanced search facility that allows querying the database using a combination of terms including phenotypes, gene symbols, chromosomal locations bands and other fields Please follow this short guide to help you make effective queries against the DECIPHER database
  • COL10A1 - DECIPHER v11. 38
    COL10A1 6:116118909-116158747 Reverse strand gene: collagen type X alpha 1 chain Also known as: ENSG00000123500 Function: Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage Source: UniProt DECIPHER holds 2 sequence variants in this gene, in 2 open-access patients
  • VWA8 - DECIPHER v11. 37
    DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwide
  • Welcome to the DECIPHER Database An introduction for Families
    Decipher was developed as a tool for clinical geneticists (doctors who specialise in genetic conditions such as chromosome disorders), genetic scientists (scientists who analyse chromosomes DNA) and molecular biologists (scientists who study the way genes behave and how they affect health and development) In order to promote progress in medical and scientific understanding of these
  • TP63 - DECIPHER v11. 38
    TP63 3:189631389-189897276 Forward strand gene: tumor protein p63 Formerly known as: TP53CP, TP53L, TP73L Also known as: p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP, p40, ENSG00000073282 Function: Acts as a sequence specific DNA binding transcriptional activator or repressor The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting
  • TMEM127 - DECIPHER v11. 38
    TMEM127 2:96248500-96266047 Reverse strand gene: transmembrane protein 127 Also known as: FLJ20507, FLJ22257, ENSG00000135956 Function: Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1 May act as a tumor suppressor Source: UniProt DECIPHER holds no open-access sequence variants in this gene





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