TEFM Gene
protein-coding GIFtS: 44
GCID: GC17M029227
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transcription elongation factor, mitochondrial(Previous name: chromosome 17 open reading frame 42 ) (Previous symbol: C17orf42)
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Aliases for TEFM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Transcription Elongation Factor, Mitochondrial1 2 | | C17orf421 2 3 | | FLJ227291 | | Chromosome 17 Open Reading Frame 421 | | Transcription Elongation Factor Of Mitochondria2 |
Export aliases for TEFM gene to outside databases |
Summaries for TEFM gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: TEFM_HUMAN, Q96QE5Function: Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulatestranscription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery
|
Genomic Views for TEFM 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_000017.10 NC_018928.1 NT_010799.15
Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for TEFM Other transcription factors
Search SABiosciences Chromatin IP Primers for TEFM
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TEFM |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2TEFM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M029227: view genomic region
(about GC identifiers)
Start:
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29,224,354 bp from pter |
End:
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29,233,838 bp from pter |
Size:
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9,485 bases |
Orientation:
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minus strand |
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Proteins for TEFM 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: TEFM_HUMAN, Q96QE5 (See
protein sequence)Recommended Name: Transcription elongation factor, mitochondrial precursor Size: 360 amino acids; 41676 Da
Subunit: Interacts with POLRMT
Subcellular location: Mitochondrion matrix. Mitochondrion matrix, mitochondrion nucleoid
Sequence caution: Sequence=AAH73169.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB15468.1;Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: E1P655 Q6GPG5 Q6PJ19 Q96H04 Q9H5Z9Alternative splicing: 2 isoforms: Q96QE5-1 Q96QE5-4 Explore the universe of human proteins at neXtProt for TEFM: NX_Q96QE5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96QE5 TEFM Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_078959.3 ENSEMBL proteins: ENSP00000462963 ENSP00000306574 ENSP00000462973 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
TEFM for ontologies About GeneDecksing
TEFM Antibody Products: Assay Products for TEFM: |
Protein
Domains / Families for TEFM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TEFM for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96QE5ProtoNet protein and cluster: Q96QE5 UniProtKB/Swiss-Prot: TEFM_HUMAN, Q96QE5Similarity: Belongs to the TEFM family |
Function for TEFM 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: TEFM_HUMAN, Q96QE5Function: Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulatestranscription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery
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 TEFM (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TEFM (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for TEFM | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TEFM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TEFM  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TEFM |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003676 | nucleic acid binding |
IEA | -- | | GO:0005515 | protein binding |
IPI | -- | | GO:0008821 | NOT crossover junction endodeoxyribonuclease activity |
IDA | -- | | GO:0030337 | DNA polymerase processivity factor activity |
IDA | -- |
TEFM for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TEFM:
|
Pathways & Interactions for TEFM 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 TEFM
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 5/236 Interacting proteins for TEFM (Q96QE52, 3 ENSP000003065744) via UniProtKB, MINT, STRING, and/or I2D (see all 236)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006119 | oxidative phosphorylation |
IMP | -- | | GO:0006259 | DNA metabolic process |
-- | -- | | GO:0006264 | NOT mitochondrial DNA replication |
IMP | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0006390 | transcription from mitochondrial promoter |
IMP | -- |
TEFM for ontologies About GeneDecksing
|
Drugs & Compounds for TEFM 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 TEFM Search CenterWatch for drugs/clinical trials and news about TEFM 
|
Transcripts for TEFM 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 TEFM gene: NM_024683.3 Unigene Cluster for TEFM: Transcription elongation factor, mitochondrial Hs.317340 [show with all ESTs]Unigene Representative Sequence: BC0646315 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000579183 ENST00000581216(uc002hfu.2 uc002hfv.2 uc010wbs.1) ENST00000306049 ENST00000580840(uc002hfw.2) ENST00000541382
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TEFM (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TEFM (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for TEFM | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TEFM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TEFM  |
Additional cDNA sequence: AF086465.1 AJ314645.1 AK298495.1 BC009025.2 BC064631.1 BC073169.1 CR457360.1 10 DOTS entries: DT.100793086 DT.100793085 DT.120972603 DT.91748857 DT.305623 DT.410828 DT.120973080 DT.410829 DT.95372721 DT.120973129 24/107 AceView cDNA sequences (see all 107): AI081824 AJ314645 NM_024683 AA352491 AI718270 BQ776248 AI140895 BQ003763 BE350591 BQ186916 BQ011872 AW510322 N72094 AF086465 AA454582 BQ027063 CR619488 AA251657 AK026382 CR602324 BC009025 AI276174 CD364654 CA422718 GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for TEFM About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for TEFM
|
Expression for TEFM 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
| TEFM expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTATTGGAAA
About this image See TEFM Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TEFM
SOURCE GeneReport for Unigene cluster: Hs.317340 SABiosciences Custom PCR Arrays for TEFM
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TEFM Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat TEFM | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TEFM | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TEFM | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TEFM |
Orthologs for TEFM 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 chordates.
Orthologs for TEFM gene from 4/13 species (see all 13) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Tefm1 , 5 |
RIKEN cDNA 1110002N22 gene5 transcription elongation factor, mitochondrial1 |
76.76(n)1 69.12(a)1 |
  |
11 (47.53 cM)5 685501 NM_183275.21 NP_899098.21 801366785 |
lizard (Anolis carolinensis) |
Reptilia |
C17orf426 |
-- |
53(a) |
1 ↔ 1 |
GL343198.1(1552840-1557077) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.184642 |
Xenopus laevis transcribed sequence with moderate similarity more |
79.62(n) |
  |
BG347812.1 |
zebrafish (Danio rerio) |
Actinopterygii |
tefm1 |
transcription elongation factor, mitochondrial |
55.97(n) 48.46(a) |
  |
566236 NM_001080026.1 NP_001073495.1 |
ENSEMBL Gene Tree for TEFM (if available) TreeFam Gene Tree for TEFM (if available)  |
Paralogs for TEFM gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for TEFM 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 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for TEFM (29224354 - 29233838 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for TEFM: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TEFM |
|
Disorders
/ Diseases for TEFM 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
|
TEFM for disorders About GeneDecksing
2 diseases for TEFM: About MalaCardssotos syndrome neurofibromatosis Export disorders for TEFM gene to outside databases
|
Publications for TEFM 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 TEFM gene, integrated from 9 sources (see all 15): (articles sorted by number of sources associating them with TEFM) | |  | Utopia: connect your pdf to the dynamic world of online information |
- TEFM (c17orf42) is necessary for transcription of human mtDNA. (PubMed id 21278163)1, 2, 3 Minczuk M.... Holt I.J. (2011)
- Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PubMed id 11468690)1, 2, 3 Jenne D.E....Kehrer-Sawatzki H. (2001)
- A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. (PubMed id 10843809)1, 3 Jenne D.E.... Thiel G. (2000)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- RNF135 mutations are not present in patients with Sotos syndrome-like features. (PubMed id 19291764)1 Visser R....Losekoot M. (2009)
- Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. (PubMed id 17632510)1 Douglas J.... Rahman N. (2007)
- 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)
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External Searches for TEFM gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TEFM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TEFM gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TEFM 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 TEFM | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TEFM gene: Search GeneIP for patents involving TEFM
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for TEFM 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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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for TEFM | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TEFM | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TEFM | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for TEFM | | OriGene 3'-UTR Clone for TEFM | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TEFM | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TEFM | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for TEFM | | OriGene Custom Protein Services for TEFM | | OriGene Custom Immunoassay Development | | |
| |  |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TEFM | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TEFM | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TEFM | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TEFM | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TEFM | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TEFM |
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| | | Search Tocris compounds for TEFM |
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 | | TEFM Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TEFM |
|  |  |  | | | ThermoFisher Antibodies for TEFM |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TEFM |
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