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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDX49 Gene

protein-coding   GIFtS: 51
GCID: GC19P019030

DEAD (Asp-Glu-Ala-Asp) box polypeptide 49

 Explore 1 disease affiliated with
DDX49 via our new
 Human Malady Compendium 
Biological research products
for DDX49
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 491 2     Probable ATP-Dependent RNA Helicase DDX492
DEAD Box Protein 492 3     EC 3.6.4.133
FLJ104321     EC 3.6.18
R27090_22     

External Ids:    HGNC: 186841   Entrez Gene: 545552   Ensembl: ENSG000001056717   UniProtKB: Q9Y6V73   
ORGUL members:         
NONCODE:n409322    

Export aliases for DDX49 gene to outside databases

Previous GC identifers: GC19P018875 GC19P018891 GC19P018594


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDX49 gene promoter:
         AhR   AML1a   MyoD   Lmo2   CUTL1   Nkx2-5   c-Ets-1   HEN1   FOXJ2   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDX49 promoter sequence
   Search SABiosciences Chromatin IP Primers for DDX49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDX49


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p12   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p12

DDX49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX49 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P019030:  view genomic region     (about GC identifiers)

Start:
19,030,484 bp from pter      End:
19,039,442 bp from pter
Size:
8,959 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DDX49_HUMAN, Q9Y6V7 (See protein sequence)
Recommended Name: Probable ATP-dependent RNA helicase DDX49  
Size: 483 amino acids; 54226 Da
Secondary accessions: Q53FJ1

Explore the universe of human proteins at neXtProt for DDX49: NX_Q9Y6V7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y6V7

  • 4/17 DME Specific Peptides for DDX49 (Q9Y6V7) (see all 17)
     TDVASRG  RVGRTAR  TPTRELA  YIHRVGR 

    DDX49 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_061943.2  
    ENSEMBL proteins: 
     ENSP00000247003   ENSP00000395377  

    Human Recombinant Protein Products: 
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    Uscn Proteins for DDX49


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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DDX49 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR014014 RNA_helicase_DEAD_Q_motif
     IPR000629 RNA-helicase_DEAD-box_CS
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q9Y6V7

    ProtoNet protein and cluster: Q9Y6V7

    1 Blocks protein family: IPB000629 ATP-dependent helicase

    UniProtKB/Swiss-Prot: DDX49_HUMAN, Q9Y6V7
    Similarity: Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DDX49_HUMAN, Q9Y6V7
    Catalytic activity: ATP + H(2)O = ADP + phosphate

    Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008026ATP-dependent helicase activity IEA--


    DDX49 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DDX49:
     Increased gamma-H2AX phosphory  Nuclear pre-40S maturation def 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DDX49

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/124 Interacting proteins for DDX49 (Q9Y6V73 ENSP000002470034) via UniProtKB, MINT, STRING, and/or I2D (see all 124)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DDX49
    Search CenterWatch for drugs/clinical trials and news about DDX49 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DDX49 gene: 
    NM_019070.4  

    Unigene Cluster for DDX49:

    DEAD (Asp-Glu-Ala-Asp) box polypeptide 49
    Hs.143187  [show with all ESTs]
    Unigene Representative Sequence: BC000979
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247003(uc002nkq.2 uc002nks.2) ENST00000438170(uc002nkr.2 uc002nkt.1)


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    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DDX49 (see all 7)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DDX49
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DDX49

    Additional cDNA sequence: 

    AK001294.1 AK223294.1 AK291916.1 BC000979.3 BC002674.2 BX647408.1 NR_033677.1 

    15 DOTS entries:

    DT.100809950  DT.100809952  DT.446105  DT.100809954  DT.100809955  DT.95155786  DT.75149763  DT.100809937 
    DT.40132185  DT.95155795  DT.100809943  DT.100809945  DT.100809956  DT.121497945  DT.95119200 

    24/334 AceView cDNA sequences (see all 334):

    AU125015 CB116848 CB130385 BI756099 BQ226498 BI489915 CR598806 BG995958 
    CR625335 BM921572 BM854300 AW954439 BQ639096 CR591567 BU166432 BU148497 
    BU542978 BI871604 BM711049 NM_019070 BP372606 CR609065 BQ215667 BM854148 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for DDX49 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                                                                                                                
    SP2:                                      -                                                                                                         
    SP3:                                      -     -                                                                                                   
    SP4:                          -           -     -                                                                                                   
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for DDX49

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DDX49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCGGGAGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DDX49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDX49

    SOURCE GeneReport for Unigene cluster: Hs.143187
        SABiosciences Custom PCR Arrays for DDX49
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDX49 gene from 8/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDX491 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 76.66(n)
    84.89(a)
      420116  NM_001030938.1  NP_001026109.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia ddx49-A-prov2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 74.9(n)    BC049396.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ddx492 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 74.94(n)   386632  BC047834.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dbp45A1 DEAD box protein 45A 55.33(n)
    51.03(a)
      35917  NM_057579.4  NP_476927.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H20J04.41 Protein H20J04.4 51.89(n)
    50.78(a)
      186756  NM_001047324.1  NP_001040789.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DBP8(YHR169W)4
    DBP81
    ATPase, putative RNA helicase of the DEAD-box family; more4
    Dbp8p1
    50.73(n)1
    49.76(a)1
      8(442181-443476)4
    8565741, 4  NP_012039.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RH361 DEAD-box ATP-dependent RNA helicase 36 50.86(n)
    47.42(a)
      838197  NM_101494.1  NP_173078.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g06335001 hypothetical protein 52.86(n)
    50.74(a)
      4344011  NM_001066909.1  NP_001060374.1 


    ENSEMBL Gene Tree for DDX49 (if available)
    TreeFam Gene Tree for DDX49 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DDX49 gene
    DDX472  
    18/20 SIMAP similar genes for DDX49 using alignment to 6 protein entries:     DDX49_HUMAN (see all proteins) (see all similar genes):
    DKFZp564G1016    DDX47    E4-DBP    DDX39B    DDX27    DDX39A
    DDX54    DDX6    DDX4    DDX42    DDX17    DDX41
    DDX5    DDX18    DDX46    EIF4A3    EIF4A1    EIF4A2

    DDX49 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/187 NCBI SNPs in DDX49 are shown (see all 187    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753577551,2
    C,--19032224(+) CACAGG/TTTTGG 2 -- int14Minor allele frequency- T:0.05NA WA EA 360
    rs81059811,2
    C,A--19032319(+) CACAAT/CGGCCT 2 -- int12Minor allele frequency- C:0.00NA 4
    rs1863511931,2
    --19032375(+) AGGAGC/TCTGGG 2 -- int10--------
    rs455944321,2
    F,--19032410(+) GGAGAG/AGGGAA 2 -- int11Minor allele frequency- A:0.02NA 120
    rs1997014291,2
    --19032459(+) GCCCCC/TTCACA 2 -- int10--------
    rs22319961,2
    C,F,H,--19032561(+) GGGTAC/TGGGAG 2 -- int19Minor allele frequency- T:0.01NS EA NA WA CSA EU 1741
    rs81063631,2
    A--19032618(+) CCACCC/TGCCCA 2 -- int10--------
    rs22319971,2
    C,F,A,H,--19032637(+) TCTCAC/TGCTCT 2 -- int127Minor allele frequency- T:0.40EA NA NS WA CSA EU 4798
    rs1384119641,2
    --19032640(+) CATGC-/TCTG  
            
    TCCCC
    2 -- int10--------
    rs1807455261,2
    C,--19032647(+) TGTCCA/CCCAGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for DDX49 (19030484 - 19039442 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DDX49: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DDX49
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX49

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DDX49 for disorders           About GeneDecksing

    1 disease for DDX49:    About MalaCards
    malaria


    Export disorders for DDX49 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DDX49 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with DDX49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Human CCAAT/enhancer-binding protein b interacts with chromatin remodeling complexes of the imitation switch subfamily. (PubMed id 22242598)1 Steinberg X.P....Gutierrez J.L. (2012)
    5. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54555 HGNC: 18684 AceView: DDX49 Ensembl:ENSG00000105671 euGenes: HUgn54555
    ECgene: DDX49 H-InvDB: DDX49

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DDX49 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDX49 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DDX49 gene:
    Search GeneIP for patents involving DDX49

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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