NXNL1 Gene
protein-coding GIFtS : 49
GCID: GC19 M017566
nucleoredoxin-like 1 (Previous name: thioredoxin-like 6 ) (Previous symbol: TXNL6 )
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Aliasesfor NXNL1 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 Nucleoredoxin-Like 1 1 2 Thioredoxin-Like Protein 62 3 TXNL61 2 3 Nucleoredoxin-Like Protein 12 RDCVF1 2 Rod-Derived Cone Viability Factor2 Thioredoxin-Like 61 2
Export aliases for NXNL1 gene to outside databases Previous GC identifers: GC19M017429 GC19M017131
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Summariesfor NXNL1 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: NXNL1_HUMAN, Q96CM4 Function : May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role indegenerating rods (By similarity)
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Genomic Viewsfor NXNL1 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_000019.9 NC_018930.1 NT_011295.11 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NXNL1 gene promoter: Sp1 MyoD RORalpha2 Egr-2 PPAR-gamma1 c-Myb FOXO1a PPAR-gamma2 FOXO1 Other transcription factors Search SABiosciences Chromatin IP Primers for NXNL1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NXNL1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 19p13.11 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13.12 NXNL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 19 GeneLoc Exon Structure
GeneLoc location for GC19M017566: view genomic region
(about GC identifiers )
Start:
17,566,234 bp from pter
End:
17,571,725 bp from pter
Size:
5,492 bases
Orientation:
minus strand
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Proteinsfor NXNL1 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: NXNL1_HUMAN, Q96CM4 (See
protein sequence )Recommended Name: Nucleoredoxin-like protein 1 Size : 212 amino acids; 23943 Da
Subcellular location : Nucleus outer membrane (By similarity)Explore the universe of human proteins at neXtProt for NXNL1: NX_Q96CM4 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q96CM4 NXNL1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_612463.1 ENSEMBL proteins: ENSP00000305631 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005640 nuclear outer membrane
IEA -- GO:0005739 mitochondrion
IEA --
NXNL1 for ontologies About GeneDecksing NXNL1 Antibody Products: Assay Products for NXNL1:
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Protein
Domains / Familiesfor NXNL1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
NXNL1 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q96CM4 ProtoNet protein and cluster: Q96CM4
1 Blocks protein family : IPB006662 Thioredoxin type domain UniProtKB/Swiss-Prot: NXNL1_HUMAN, Q96CM4 Similarity : Belongs to the nucleoredoxin familySimilarity : Contains 1 thioredoxin domain
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Functionfor NXNL1 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: NXNL1_HUMAN, Q96CM4 Function : May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role indegenerating rods (By similarity)
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 NXNL1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NXNL1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: NXNL1 (NM_138454 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NXNL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat NXNL1
1 GenomeRNAi human phenotype for NXNL1 :Animal Models: Mouse knock-out Nxnl1 tm1.2Tlev for NXNL1 6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Nxnl1) :
NXNL1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor NXNL1 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 NXNL1 STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)5 Interacting proteins for NXNL1 (Q96CM4 3 ENSP00000305631 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table
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Drugs & Compoundsfor NXNL1 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 NXNL1 Search CenterWatch for drugs/clinical trials and news about NXNL1
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Transcriptsfor NXNL1 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 NXNL1 gene: NM_138454.1 Unigene Cluster for NXNL1:
Nucleoredoxin-like 1 Hs.661836 [show with all ESTs ] Unigene Representative Sequence: BM460222 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000301944 (uc002ngs.3 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NXNL1 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NXNL1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: NXNL1 (NM_138454 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NXNL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat NXNL1
Additional cDNA sequence: BC014127.1 DQ426894.1
1 DOTS entry : DT.95240881
17 AceView cDNA sequences :
BM664663 BG395178 CB153710 BM846285 NM_138454 BM846283 BM703164 BQ638311 BC014127 BQ639327 BM460222 BM847087 BC039402 BM925642 BQ440125 BI560556 BI598673 GeneLoc Exon Structure
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Expression for NXNL1 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 NXNL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CCAAAGAAAT
About this image NXNL1 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) Eye Outer Nuclear Layer Mature Rod Cells Photoreceptors, Retina Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See NXNL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for NXNL1 SOURCE GeneReport for Unigene cluster: Hs.661836 SABiosciences Custom PCR Arrays for NXNL1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NXNL1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat NXNL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NXNL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NXNL1
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Orthologsfor NXNL1 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 chordates.
Orthologs for NXNL1 gene from 4/9 species (see all 9 ) About this table
ENSEMBL Gene Tree for NXNL1 (if available)TreeFam Gene Tree for NXNL1 (if available)
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Paralogsfor NXNL1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for NXNL1 gene NXNL2 2 NXN 2 1 SIMAP similar gene for NXNL1 using alignment to 1 protein entry: NXNL1_HUMAN :NXNL2
NXNL1 for paralogs About GeneDecksing
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Genomic Variantsfor NXNL1 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 19 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for NXNL1 (17566234 - 17571725 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for NXNL1: -- Human Gene Mutation Database (HGMD) : NXNL1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NXNL1
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Disorders
/ Diseasesfor NXNL1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
NXNL1 for disorders About GeneDecksing
OMIM gene information: 608791
OMIM disorders : --6 diseases for NXNL1 : About MalaCards bardet-biedl syndrome leber congenital amaurosis retinitis pigmentosa retinal degeneration retinitis blindness 1 disease from the University of Copenhagen DISEASES database for NXNL1 :Retinitis pigmentosa 2 Novoseek disease relationships for NXNL1 gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
retinitis pigmentosa
82.9
7
19843539 (4), 15639013 (1), 19277021 (1)
blindness
46.3
3
19843539 (2)
Human Genome Epidemiology (HuGE) Navigator: NXNL1 (1 document)Export disorders for NXNL1 gene to outside databases
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Publicationsfor NXNL1 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 NXNL1 gene, integrated from 9 sources (see all 24 ): (articles sorted by number of sources associating them with NXNL1) Utopia : connect your pdf to the dynamic world of online information
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 , 3 Strausberg R.L....Marra M.A. (2002) Thioredoxin-like 6 protects retinal cell line from photooxidative damage by upregulating NF-kappaB activity. (PubMed id 18474255) 1 , 9 Wang X.W....Ding J.L. (2008) The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina. (PubMed id 19843539) 1 , 9 Reichman S....LAcveillard T. (2010) Identification and characterization of rod-derived cone viability factor. (PubMed id 15220920) 1 , 9 Leveillard T....Sahel J.A. (2004) Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. (PubMed id 17249548) 1 , 9 Hanein S....Leveillard T. (2006) Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950) 1 Lee O.H....Songyang Z. (2011) TXNL6 is a novel oxidative stress-induced reducing sy stem for methionine sulfoxide reductase a repair of I+-crystallin and cytochrome C in the eye lens. (PubMed id 21079812) 1 Brennan L.A....Kantorow M. (2010) Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity. (PubMed id 20949100) 1 Lambard S....Zack D.J. (2010) BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PubMed id 19402160) 1 Bin J....HAcon E. (2009) 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)
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External Searches for NXNL1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing NXNL1 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 NXNL1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing NXNL1 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 NXNL1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for NXNL1 gene: Search GeneIP for patents involving NXNL1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor NXNL1 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 NXNL1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for NXNL1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NXNL1 OriGene Protein Over-expression Lysate for NXNL1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for NXNL1 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NXNL1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NXNL1 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 OriGene Purified Protein for NXNL1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for NXNL1 OriGene Custom Protein Services for NXNL1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NXNL1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NXNL1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NXNL1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat NXNL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NXNL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NXNL1
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat NXNL1
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