AVL9 Gene
protein-coding GIFtS: 47
GCID: GC07P032535
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AVL9 homolog (S. cerevisiase)(Previous name: KIAA0241 )
(Previous symbol: KIAA0241)
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Aliases
for AVL9 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| AVL9 Homolog (S. Cerevisiase)1 2 | | KIAA02411 2 3 5 | | Late Secretory Pathway Protein AVL9 Homolog2 |
Export aliases for AVL9 gene to outside databasesPrevious GC identifers: GC07P032502 GC07P032412 |
Summaries
for AVL9 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: AVL9_HUMAN, Q8NBF6Function: Functions in cell migration
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Genomic Views
for AVL9 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_000007.13 NC_018918.1 NT_007819.17 NT_079592.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AVL9 gene promoter:
AML1a FOXF2 POU3F2 (N-Oct-5b) NRF-2 Nkx6-1 HSF2 FOXJ2 (long isoform) FOXO1a FOXJ2 FOXO1
Other transcription factors
Search SABiosciences Chromatin IP Primers for AVL9
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVL9 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7p14.3 Ensembl cytogenetic band: 7p14.3 HGNC cytogenetic band: 7p14.3AVL9 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P032535: view genomic region
(about GC identifiers)
Start:
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32,535,038 bp from pter |
End:
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33,078,516 bp from pter |
Size:
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543,479 bases |
Orientation:
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plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 32,580,373-32,668,300 |
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Proteins
for AVL9 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: AVL9_HUMAN, Q8NBF6 (See
protein sequence)Recommended Name: Late secretory pathway protein AVL9 homolog Size: 648 amino acids; 71947 Da
Subcellular location: Recycling endosome. Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q92573Alternative splicing: 2 isoforms: Q8NBF6-1 Q8NBF6-2 Explore the universe of human proteins at neXtProt for AVL9: NX_Q8NBF6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NBF6
AVL9 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055875.1
ENSEMBL proteins: ENSP00000315568 ENSP00000387011 ENSP00000395134 ENSP00000385242
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:0016021 | integral to membrane |
IEA | -- | | GO:0055037 | recycling endosome |
IDA | -- |
AVL9 for ontologies About GeneDecksing
AVL9 Antibody Products:
Assay Products for AVL9: |
Protein
Domains /
Families
for AVL9 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AVL9 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8NBF6ProtoNet protein and cluster: Q8NBF6 UniProtKB/Swiss-Prot: AVL9_HUMAN, Q8NBF6Similarity: Belongs to the AVL9 family |
Function
for AVL9 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: AVL9_HUMAN, Q8NBF6Function: Functions in cell migration
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 AVL9 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AVL9
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: AVL9 (NM_015060) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AVL9 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVL9 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVL9 |
|
Pathways & Interactions
for AVL9 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 AVL9
5/27 Interacting proteins for AVL9 (Q8NBF63) via UniProtKB, MINT, STRING, and/or I2D (see all 27)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016477 | cell migration |
IDA | -- |
AVL9 for ontologies About GeneDecksing
|
Drugs & Compounds
for AVL9 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 AVL9
Search CenterWatch for drugs/clinical trials and news about AVL9
|
Transcripts
for AVL9 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 AVL9 gene: NM_015060.1 Unigene Cluster for AVL9: AVL9 homolog (S. cerevisiase) Hs.128056 [show with all ESTs]Unigene Representative Sequence: D876829 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000485228 ENST00000318709(uc003tcv.1) ENST00000459629 ENST00000409301
ENST00000446718(uc010kwj.1) ENST00000470500 ENST00000467779 ENST00000497020
ENST00000404479(uc011kai.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVL9 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AVL9
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AVL9 (NM_015060) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AVL9 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVL9 |
Additional cDNA sequence: AK090619.1 BC027724.2 D87682.1 11 DOTS entries: DT.100745268 DT.86821223 DT.95162278 DT.100752070 DT.417788 DT.99936092 DT.101963299 DT.121048878 DT.121048895 DT.40207006 DT.95162282 24/192 AceView cDNA sequences (see all 192): AL135066 AA811937 CR596746 BM992245 H88848 BF510156 BQ723071 BQ029404 BM828293 BM713170 AI651366 BF447245 BM675038 AX746537 AA400288 AA261815 BX507830 CK429533 BM984271 AI417726 BM971362 BC027724 AK090619 AI859702
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for AVL9 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | - | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AVL9
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Expression
for AVL9 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
| AVL9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTGATCAG
About this image
See AVL9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AVL9
SOURCE GeneReport for Unigene cluster: Hs.128056
SABiosciences Custom PCR Arrays for AVL9
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AVL9
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AVL9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVL9 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVL9 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVL9 |
Orthologs
for AVL9 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 animals.
Orthologs for AVL9 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for AVL9 (if available)
TreeFam Gene Tree for AVL9 (if available) |
Paralogs
for AVL9 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for AVL9 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 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AVL9 (32535038 - 32785038 bp, first 250kb of AVL9)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AVL9
2 CNVs: 43326 69850 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AVL9 |
|
Disorders
/ Diseases
for AVL9 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
|
AVL9 for disorders About GeneDecksing
OMIM gene information: 612927
OMIM disorders: --
1  disease for AVL9: About MalaCardsmitral valve prolapse
1 disease from the University of Copenhagen DISEASES database for AVL9:Mitral valve prolapse Export disorders for AVL9 gene to outside databases
|
Publications
for AVL9 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 AVL9 gene integrated from 9 sources:
(articles sorted by number of sources associating them with AVL9) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Avl9p, a member of a novel protein superfamily, functions in the late secretory pathway. (PubMed id 17229886)1, 3 Harsay E. and Schekman R. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
- Rab14 and its exchange factor FAM116 link endocytic re cycling and adherens junction stability in migrating cells. (PubMed id 22595670)2 Linford A....Barr F.A. (2012)
- 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)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
- 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 AVL9 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing AVL9 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AVL9 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing AVL9 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 AVL9 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for AVL9 gene:
Search GeneIP for patents involving AVL9
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AVL9 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 AVL9 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AVL9 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AVL9 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AVL9 | | OriGene 3'-UTR Clone for AVL9 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AVL9 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVL9 | | | 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 AVL9 | | OriGene Custom Protein Services for AVL9 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AVL9 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AVL9 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVL9 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVL9 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVL9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVL9 |
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 |  |  |  | |
| | | | Search Tocris compounds for AVL9 |
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 | | | AVL9 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVL9 |
|  |  |  | | | | ThermoFisher Antibodies for AVL9 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVL9 |
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