EFHC2 Gene
protein-coding GIFtS : 50
GCID: GC0X M044007
EF-hand domain (C-terminal) containing 2
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Aliasesfor EFHC2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases EF-Hand Domain (C-Terminal) Containing 2 1 2 FLJ228431 DJ1158H2.11 EF-Hand Domain-Containing Family Member C22
Export aliases for EFHC2 gene to outside databases Previous GC identifers: GC0XM043764 GC0XM043892 GC0XM041736
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Summariesfor EFHC2 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 EFHC2 : This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. (provided by RefSeq, Aug 2011)
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Genomic Viewsfor EFHC2 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_000023.10 NC_018934.1 NT_079573.4 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the EFHC2 gene promoter: RFX1 CUTL1 MIF-1 NF-AT NF-AT4 POU2F1 NF-AT2 POU2F1a NF-AT3 NF-AT1 Other transcription factors Search SABiosciences Chromatin IP Primers for EFHC2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFHC2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xp11.3 Ensembl cytogenetic band: Xp11.3 HGNC cytogenetic band: Xp11 EFHC2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM044007: view genomic region
(about GC identifiers )
Start:
44,007,128 bp from pter
End:
44,202,923 bp from pter
Size:
195,796 bases
Orientation:
minus strand
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Proteinsfor EFHC2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: EFHC2_HUMAN, Q5JST6 (See
protein sequence )Recommended Name: EF-hand domain-containing family member C2 Size : 749 amino acids; 87397 Da
Sequence caution : Sequence=CAI40213.1; Type=Erroneous initiation; Sequence=CAI42234.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for EFHC2 :2Z13 (3D)
  2Z14 (3D)
 
Secondary accessions : Q5JST8 Q68DK4 Q8NEI0 Q9H653Alternative splicing : 2 isoforms : Q5JST6-1 Q5JST6-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for EFHC2: NX_Q5JST6 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q5JST6 EFHC2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_079460.2 ENSEMBL proteins: ENSP00000340643 ENSP00000404232 ENSP00000397513 ENSP00000333823 Human Recombinant Protein Products: EFHC2 Antibody Products: Assay Products for EFHC2:
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Protein
Domains / Familiesfor EFHC2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
EFHC2 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q5JST6 ProtoNet protein and cluster: Q5JST6
UniProtKB/Swiss-Prot: EFHC2_HUMAN, Q5JST6 Similarity : Contains 3 DM10 domainsSimilarity : Contains 1 EF-hand domain
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Functionfor EFHC2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 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 EFHC2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for EFHC2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: EFHC2 (NM_025184 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EFHC2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat EFHC2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC2
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005509 calcium ion binding
IEA --
EFHC2 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for EFHC2 :
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Pathways & Interactionsfor EFHC2 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 EFHC2 STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)3 Interacting proteins for EFHC2 (Q5JST6 3 ENSP00000404232 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table
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Drugs & Compoundsfor EFHC2 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 EFHC2 Search CenterWatch for drugs/clinical trials and news about EFHC2
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Transcriptsfor EFHC2 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
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siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
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GenScript ,
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Primers from
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SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for EFHC2 gene: NM_025184.3 Unigene Cluster for EFHC2:
EF-hand domain (C-terminal) containing 2 Hs.521953 [show with all ESTs ] Unigene Representative Sequence: NM_025184 4 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000343571 ENST00000420999 ENST00000441230 ENST00000333807 (uc022bvg.1 uc004dgb.4 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for EFHC2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for EFHC2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: EFHC2 (NM_025184 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for EFHC2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat EFHC2
Additional cDNA sequence: AK026254.1 AK026496.1 AK291187.1 AK292967.1 AK297714.1 BC031039.1 CR749363.1
4 DOTS entries : DT.91674159 DT.75185185
DT.121306720 DT.121306716 12 AceView cDNA sequences :
AI565965 AV755842 CN479103 AK026254 CA311019 AV723389 CR749363 BF966897 NM_025184 BG215741 BC031039 AK026496 GeneLoc Exon Structure
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Expression for EFHC2 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 EFHC2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image EFHC2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Brain Blood Brain Barrier Adult Endothelial Cells Blood Brain Barrier, Endothelium Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell Name Category Posterior foregut-like cells (A scalable, suspensi... )
See EFHC2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for EFHC2 SOURCE GeneReport for Unigene cluster: Hs.521953 SABiosciences Custom PCR Arrays for EFHC2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for EFHC2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat EFHC2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat EFHC2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat EFHC2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC2
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Orthologsfor EFHC2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for EFHC2 gene from 6/22 species (see all 22 ) About this table
ENSEMBL Gene Tree for EFHC2 (if available)TreeFam Gene Tree for EFHC2 (if available)
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Paralogsfor EFHC2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for EFHC2 gene EFHC1 2 1 SIMAP similar gene for EFHC2 using alignment to 2 protein entries: EFHC2_HUMAN (see all proteins ):EFHC1
EFHC2 for paralogs About GeneDecksing
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Genomic Variantsfor EFHC2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for EFHC2 (44007128 - 44202923 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for EFHC2 1 Indel : 11364 Human Gene Mutation Database (HGMD) : EFHC2 Locus Specific Mutation Databases (LSDB): EFHC2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing EFHC2
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Disorders
/ Diseasesfor EFHC2 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
EFHC2 for disorders About GeneDecksing
OMIM gene information: 300817
OMIM disorders : --2 diseases for EFHC2 : About MalaCards turner syndrome juvenile myoclonic epilepsy 1 disease from the University of Copenhagen DISEASES database for EFHC2 :Turner syndrome Human Genome Epidemiology (HuGE) Navigator: EFHC2 (3 documents) Export disorders for EFHC2 gene to outside databases
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Publicationsfor EFHC2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for EFHC2 gene integrated from 9 sources : (articles sorted by number of sources associating them with EFHC2) Utopia : connect your pdf to the dynamic world of online information
The DNA sequence of the human X chromosome. (PubMed id 15772651) 1 , 2 Ross M.T.... Bentley D.R. (2005) A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. (PubMed id 16112844) 1 , 2 Gu W.... Steinlein O.K. (2005) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance. (PubMed id 19429002) 1 Blaya C....Smoller J.W. (2009) EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome. (PubMed id 17948898) 1 Zinn A.R....Ross J.L. (2008) Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. (PubMed id 17164267) 1 Weiss L.A....Skuse D. (2007) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (2007) 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)
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External Searches for EFHC2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing EFHC2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing EFHC2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing EFHC2 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 EFHC2 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for EFHC2 gene: Search GeneIP for patents involving EFHC2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor EFHC2 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
Browse OriGene Antibodies OriGene shRNA RFP for EFHC2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for EFHC2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for EFHC2 OriGene Protein Over-expression Lysate for EFHC2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for EFHC2 OriGene 3'-UTR Clone for EFHC2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for EFHC2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for EFHC2 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 EFHC2 OriGene Custom Protein Services for EFHC2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EFHC2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing EFHC2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFHC2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat EFHC2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat EFHC2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat EFHC2
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EFHC2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFHC2
ThermoFisher Antibodies for EFHC2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat EFHC2
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