HFM1 Gene
protein-coding GIFtS : 52
GCID: GC01 M091726
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (Previous name: SEC63 domain containing 1 ) (Previous symbol: SEC63D1 )
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Aliasesfor HFM1 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 HFM1, ATP-Dependent DNA Helicase Homolog (S. Cerevisiae) 1 2 Si-11-62 MER31 2 Helicase1 SEC63D11 2 Helicase-Like Protein HFM12 SEC63 Domain Containing 11 2 Probable ATP-Dependent DNA Helicase HFM12 SEC63 Domain-Containing Protein 12 3 EC 3.6.4.123 FLJ367601 SEC3D13 FLJ390111 DSS15 RP11-539G11.12 EC 3.6.18 Si-112
Export aliases for HFM1 gene to outside databases Previous GC identifers: GC01M091556 GC01M091499 GC01M089845
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Summariesfor HFM1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section --
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Genomic Viewsfor HFM1 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_000001.10 NC_018912.1 NT_032977.9 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HFM1 gene promoter: Nkx3-1 v4 Sox5 Brachyury FOXD3 HNF-3beta MEF-2A IRF-7A aMEF-2 Other transcription factors Search SABiosciences Chromatin IP Primers for HFM1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HFM1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1p22.2 Ensembl cytogenetic band: 1p22.2 HGNC cytogenetic band: 1p22.2 HFM1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M091726: view genomic region
(about GC identifiers )
Start:
91,726,323 bp from pter
End:
91,870,426 bp from pter
Size:
144,104 bases
Orientation:
minus strand
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Proteinsfor HFM1 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: HFM1_HUMAN, A2PYH4 (See
protein sequence )Recommended Name: Probable ATP-dependent DNA helicase HFM1 Size : 1435 amino acids; 162610 Da
Secondary accessions : B1B0B6 Q8N9Q0Alternative splicing : 2 isoforms : A2PYH4-1 A2PYH4-2 Explore the universe of human proteins at neXtProt for HFM1: NX_A2PYH4 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_A2PYH4 3 DME Specific Peptides for HFM1 (A2PYH4 ) HFM1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001017975.3 ENSEMBL proteins: ENSP00000359454 ENSP00000387661 ENSP00000397369 ENSP00000388900 ENSP00000409827 ENSP00000359453 ENSP00000294696 Human Recombinant Protein Products: HFM1 Antibody Products: Assay Products for HFM1:
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Protein
Domains / Familiesfor HFM1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HFM1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry A2PYH4 ProtoNet protein and cluster: A2PYH4
UniProtKB/Swiss-Prot: HFM1_HUMAN, A2PYH4 Similarity : Belongs to the helicase family. SKI2 subfamilySimilarity : Contains 1 helicase ATP-binding domainSimilarity : Contains 1 helicase C-terminal domainSimilarity : Contains 1 SEC63 domain
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Functionfor HFM1 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 Function Summary: UniProtKB/Swiss-Prot: HFM1_HUMAN, A2PYH4 Catalytic activity : ATP + H(2)O = ADP + phosphateEnzyme Numbers (IUBMB): EC 3.6.1 2 EC 3.6.4.12 1
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 HFM1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HFM1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HFM1 (NM_006304 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HFM1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HFM1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFM1
Gene Ontology (GO): 3 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:0005524 ATP binding
IEA -- GO:0008026 ATP-dependent helicase activity
IEA --
HFM1 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for HFM1 :
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Pathways & Interactionsfor HFM1 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 HFM1 STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)5/10 Interacting proteins for HFM1 (A2PYH4 3 ENSP00000359454 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 10 )About this table
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Drugs & Compoundsfor HFM1 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 HFM1 Search CenterWatch for drugs/clinical trials and news about HFM1
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Transcriptsfor HFM1 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 HFM1 gene: NM_001017975.3 Unigene Cluster for HFM1:
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) Hs.454818 [show with all ESTs ] Unigene Representative Sequence: AB204867 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000462405 ENST00000370425 (uc009wdb.3 uc001doa.4 uc010osu.2 )ENST00000430465 (uc001dob.4 ) ENST00000497520 ENST00000481900 (uc001doc.1 )ENST00000488023 ENST00000448819 ENST00000427444 ENST00000455133 ENST00000370424 ENST00000294696 (uc010osv.1 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HFM1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HFM1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HFM1 (NM_006304 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HFM1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HFM1
Additional cDNA sequence: AB044787.1 AB044788.1 AB058636.1 AB058637.1 AB074274.1 AB204867.1 AK294754.1 AK302582.1 BC062793.1 BC130525.1 BC144172.1 BC144198.1 BX649037.1
8 DOTS entries : DT.105340 DT.97796872
DT.100730550 DT.121390752 DT.121390755 DT.121390757 DT.99930630 DT.102821192 2 AceView cDNA sequences :
BX481571 AK096330 GeneLoc Exon Structure 2 Alternative Splicing Database (ASD) splice patterns (SP) for HFM1 About this scheme ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 SP1 :                                       -     SP2 :                                          
ECgene alternative splicing isoforms for HFM1
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Expression for HFM1 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 HFM1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TATTTTGTTT
About this image HFM1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table Stem Cell Differentiation: 1 LifeMap Cell Name Category Posterior foregut-like cells (A scalable, suspensi... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See HFM1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HFM1 SOURCE GeneReport for Unigene cluster: Hs.454818 SABiosciences Custom PCR Arrays for HFM1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HFM1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HFM1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HFM1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HFM1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFM1
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Orthologsfor HFM1 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 eukaryotes.
Orthologs for HFM1 gene from 6/21 species (see all 21 ) About this table
ENSEMBL Gene Tree for HFM1 (if available)TreeFam Gene Tree for HFM1 (if available)
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Paralogsfor HFM1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor HFM1 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 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HFM1 (91726323 - 91870426 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for HFM1 1 CNV : 1547 2 Indels : 59942 59941
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HFM1
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Disorders
/ Diseasesfor HFM1 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
HFM1 for disorders About GeneDecksing
OMIM gene information: 601285
OMIM disorders : --9 diseases for HFM1 : About MalaCards fukuyama congenital muscular dystrophy spastic hemiplegia hemiplegia congenital muscular dystrophy epicondylitis muscular dystrophy spasticity tuberculosis mycobacterium tuberculosis 2 diseases from the University of Copenhagen DISEASES database for HFM1 :Spastic hemiplegia Epicondylitis Human Genome Epidemiology (HuGE) Navigator: HFM1 (2 documents) Export disorders for HFM1 gene to outside databases
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Publicationsfor HFM1 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 HFM1 gene integrated from 9 sources : (articles sorted by number of sources associating them with HFM1) Utopia : connect your pdf to the dynamic world of online information
HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells. (PubMed id 17286053) 1 , 2 , 3, 9 Tanaka K....Ikeda J.E. (2006) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 , 3 Ota T.... Sugano S. (2004) Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603) 1 Flachsbart F....Nebel A. (2010) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 2 Gregory S.G.... Bentley D.R. (2006) 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 HFM1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HFM1 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 HFM1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HFM1 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 HFM1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for HFM1 gene: Search GeneIP for patents involving HFM1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HFM1 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 HFM1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HFM1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HFM1 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HFM1 OriGene 3'-UTR Clone for HFM1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HFM1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HFM1 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 HFM1 OriGene Custom Protein Services for HFM1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HFM1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HFM1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HFM1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HFM1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HFM1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HFM1
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HFM1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HFM1
ThermoFisher Antibodies for HFM1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HFM1
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