CELF6 Gene
protein-coding GIFtS: 45
GCID: GC15M072577
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|
CUGBP, Elav-like family member 6(Previous names: Bruno (Drosophila) -like 6, RNA binding protein, bruno-like...) (Previous symbol: BRUNOL6)
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Aliases for CELF6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| CUGBP, Elav-Like Family Member 61 2 | | Bruno (Drosophila) -Like 6, RNA Binding Protein1 | | BRUNOL61 2 3 5 | | Bruno-Like 6, RNA Binding Protein (Drosophila)1 | | Bruno-Like Protein 62 3 | | Bruno -Like 6, RNA Binding Protein2 | | CELF-62 3 | | Bruno-Like 6, RNA Binding Protein2 | | CUG-BP- And ETR-3-Like Factor 62 3 | | CUG-BP And ETR-3 Like Factor 62 | | RNA-Binding Protein BRUNOL-62 3 | | CUGBP Elav-Like Family Member 62 |
Export aliases for CELF6 gene to outside databasesPrevious GC identifer: GC15M049407 |
Summaries for CELF6 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for CELF6: Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminalRRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this proteinfamily regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiplealternatively spliced transcript variants encoding different isoforms have been identified in this gene. (provided byRefSeq, Feb 2010) UniProtKB/Swiss-Prot: CELF6_HUMAN, Q96J87Function: RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusionand/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing.Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner.Promotes also exon exclusion of INSR pre-mRNA
|
Genomic Views for CELF6 gene
(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_000015.9 NC_018926.1 NT_010194.17
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for CELF6 Other transcription factors
Search SABiosciences Chromatin IP Primers for CELF6
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CELF6 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q24 Ensembl cytogenetic band: 15q23 HGNC cytogenetic band: 15q24CELF6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M072577: view genomic region
(about GC identifiers)
Start:
|
72,559,087 bp from pter |
End:
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72,612,525 bp from pter |
Size:
|
53,439 bases |
Orientation:
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minus strand |
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Proteins for CELF6 gene
(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: CELF6_HUMAN, Q96J87 (See
protein sequence)Recommended Name: CUGBP Elav-like family member 6 Size: 481 amino acids; 50477 Da
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)
Sequence caution: Sequence=BAC85148.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for CELF6:2DGQ (3D)
 
Secondary accessions: B4DG28 B4DJB6 Q6PII4 Q6ZNJ7 Q8N607Alternative splicing: 4 isoforms: Q96J87-1 Q96J87-2 Q96J87-3 Q96J87-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CELF6: NX_Q96J87
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96J87 CELF6 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001166155.1 NP_001166156.1 NP_443072.3 ENSEMBL proteins: ENSP00000454749 ENSP00000287202 ENSP00000400439 ENSP00000439956 ENSP00000457863 ENSP00000378677 ENSP00000443162 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
CELF6 for ontologies About GeneDecksing
CELF6 Antibody Products: Assay Products for CELF6: |
Protein
Domains / Families for CELF6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CELF6 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96J87ProtoNet protein and cluster: Q96J87 1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
UniProtKB/Swiss-Prot: CELF6_HUMAN, Q96J87Similarity: Belongs to the CELF/BRUNOL familySimilarity: Contains 3 RRM (RNA recognition motif) domains |
Function for CELF6 gene
(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: CELF6_HUMAN, Q96J87Function: RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusionand/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing.Specifically activates exon 5 inclusion of TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner.Promotes also exon exclusion of INSR pre-mRNA
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CELF6 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CELF6 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELF6 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
CELF6 for ontologies About GeneDecksing
|
Pathways & Interactions for CELF6 gene
(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 CELF6
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000381 | regulation of alternative mRNA splicing, via spliceosome |
IDA | 14761971 | | GO:0006397 | mRNA processing |
IEA | -- |
CELF6 for ontologies About GeneDecksing
|
Drugs & Compounds for CELF6 gene(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 Tocris compounds for CELF6 Search CenterWatch for drugs/clinical trials and news about CELF6 
|
Transcripts for CELF6 gene(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 CELF6 gene (3 alternative transcripts): NM_001172684.1 NM_001172685.1 NM_052840.4 Unigene Cluster for CELF6: CUGBP, Elav-like family member 6 Hs.348342 [show with all ESTs]Unigene Representative Sequence: NM_0528408 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000569547 ENST00000287202(uc010ukl.1) ENST00000437872 ENST00000543764 ENST00000567083 ENST00000569311 ENST00000395258(uc010biw.2) ENST00000539635
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CELF6 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CELF6 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): CELF6 (NM_052840) | |  | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF401233.1 AF425606.1 AK294382.1 AK296004.1 BC030835.1 5 DOTS entries: DT.121081454 DT.121081411 DT.447310 DT.97807621 DT.100743084 24/605 AceView cDNA sequences (see all 605): BE304428 CA489404 BQ676764 BX417580 CR599467 CA455150 BU501603 BX381049 CR622531 CR599909 BU732838 BM828515 BX416226 CR594225 BM743443 BQ420423 BM757770 CR600893 BM668320 BE208703 BM744612 CD108319 BM930660 CN482016 GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CELF6 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | |
| SP1: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for CELF6
|
Expression for CELF6 gene
(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
| CELF6 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TCAGATAGTA
About this image See CELF6 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CELF6
SOURCE GeneReport for Unigene cluster: Hs.348342 UniProtKB/Swiss-Prot: CELF6_HUMAN, Q96J87Tissue specificity: Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels.Also expressed in fetal kidney SABiosciences Custom PCR Arrays for CELF6
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CELF6 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CELF6 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CELF6 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CELF6 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELF6 |
Orthologs for CELF6 gene
(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 CELF6 gene from 7/23 species (see all 23) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
BRUNOL61 |
bruno-like 6, RNA binding protein (Drosophila) |
78.38(n) 80.73(a) |
  |
427479 XM_425051.3 XP_425051.3 |
lizard (Anolis carolinensis) |
Reptilia |
CELF66 |
-- |
77(a) |
possible ortholog |
GL343490.1(1292-14752) |
zebrafish (Danio rerio) |
Actinopterygii |
LOC7949131 |
CUGBP Elav-like family member 3-A-like |
74.8(n) 75.6(a) |
  |
794913 XM_003200411.1 XP_003200459.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
bru-36 |
bruno-3 |
48(a) |
possible ortholog |
3L(13515293-13796500) |
worm (Caenorhabditis elegans) |
Secernentea |
unc-756 |
UNCoordinated family member (unc-75) |
45(a) |
1 → many |
I(11592293-11601596) |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AtRBP-DR16AT1G034576 |
RNA recognition motif-containing protein |
34(a)33(a) |
many ↔ manymany ↔ many |
4(1376306-1379420) 1(860788-864125) |
rice (Oryza sativa) |
Liliopsida |
Os07g06633001 |
hypothetical protein |
48.72(n) 42.82(a) |
  |
4344194 NM_001067084.1 NP_001060549.1 |
ENSEMBL Gene Tree for CELF6 (if available) TreeFam Gene Tree for CELF6 (if available)  |
Paralogs for CELF6 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for CELF6 gene
- CELF12 CELF42 CELF22 CELF32 CELF52
8 SIMAP similar genes for CELF6 using alignment to 2 protein entries: CELF6_HUMAN (see all proteins):BRUNOL6 TNRC4 CELF3 CELF4 CELF5 CELF1 CELF2 ELAVL2
CELF6 for paralogs About GeneDecksing
|
Genomic Variants for CELF6 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 15 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for CELF6 (72559087 - 72612525 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CELF6: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CELF6 |
|
Disorders
/ Diseases for CELF6 gene
(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
|
CELF6 for disorders About GeneDecksing
OMIM gene information: 612681
OMIM disorders: --
4 diseases for CELF6: About MalaCardsbovine spongiform encephalopathy choroiditis malaria neuronitis 1 disease from the University of Copenhagen DISEASES database for CELF6:Bovine spongiform encephalopathy Export disorders for CELF6 gene to outside databases
|
Publications for CELF6 gene (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 CELF6 gene integrated from 9 sources: (articles sorted by number of sources associating them with CELF6) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PubMed id 10893231)1, 2, 3 Good P.J.... Herring D.C. (2000)
- CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. (PubMed id 14761971)1, 2, 9 Ladd A.N.... Cooper T.A. (2004)
- Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)1 Wistow G.... Peterson K. (2002)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
|
External Searches for CELF6 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CELF6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CELF6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CELF6 gene(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
|
| Name | Description |
| PharmGKB entry for CELF6 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CELF6 gene: Search GeneIP for patents involving CELF6
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for CELF6 gene(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), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELF6 |
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