DMWD Gene
protein-coding GIFtS: 51
GCID: GC19M046286
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dystrophia myotonica, WD repeat containing(Previous name: dystrophia myotonica-containing WD repeat motif )
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Aliases
for DMWD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dystrophia Myotonica, WD Repeat Containing1 2 | | DMRN92 5 | | D19S593E1 2 | | Dystrophia Myotonica-Containing WD Repeat Motif1 | | DMR-N91 2 | | Dystrophia Myotonica WD Repeat-Containing Protein2 | | Gene591 | | DM93 | | Dystrophia Myotonica-Containing WD Repeat Motif Protein2 3 | | Protein DMR-N93 | | Protein 592 3 | | |
Export aliases for DMWD gene to outside databasesPrevious GC identifers: GC19M046917 GC19M046664 GC19M050962 GC19M050979 GC19M050978 GC19M042714 |
Summaries
for DMWD 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: DMWD_HUMAN, Q09019Function: Could have a regulatory function in meiosis
Gene Wiki entry for DMWD
|
Genomic Views
for DMWD 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_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DMWD gene promoter:
CREB AREB6 deltaCREB CUTL1 Nkx2-5 NF-kappaB NF-kappaB1 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for DMWD
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMWD |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.3 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.32DMWD 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 GC19M046286: view genomic region
(about GC identifiers)
Start:
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46,286,205 bp from pter |
End:
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46,296,060 bp from pter |
Size:
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9,856 bases |
Orientation:
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minus strand |
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Proteins
for DMWD 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: DMWD_HUMAN, Q09019 (See
protein sequence)Recommended Name: Dystrophia myotonica WD repeat-containing protein Size: 674 amino acids; 70438 Da
Miscellaneous: May have a role in the development of mental symptoms in severe cases of myotonic dystrophy
Caution: It is uncertain whether Met-1 or Met-16 is the initiatorExplore the universe of human proteins at neXtProt for DMWD: NX_Q09019
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q09019
DMWD Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004934.1
ENSEMBL proteins: ENSP00000366964 ENSP00000270223 ENSP00000444820
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- |
DMWD for ontologies About GeneDecksing
DMWD Antibody Products:
Assay Products for DMWD: |
Protein
Domains /
Families
for DMWD gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DMWD for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q09019ProtoNet protein and cluster: Q09019 UniProtKB/Swiss-Prot: DMWD_HUMAN, Q09019Similarity: Contains 5 WD repeats |
Function
for DMWD 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: DMWD_HUMAN, Q09019Function: Could have a regulatory function in meiosis Genatlas biochemistry entry for DMWD:myotonin-protein kinase related (DMR-N9 homolog),including a locus control region (see LCR-DMWD)
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 DMWD (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMWD
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DMWD (NM_004943) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DMWD | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMWD |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMWD |
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:0003674 | molecular_function |
ND | -- |
DMWD for ontologies About GeneDecksing
|
Pathways & Interactions
for DMWD 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 DMWD
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/45 Interacting proteins for DMWD (Q090192, 3 ENSP000002702234) via UniProtKB, MINT, STRING, and/or I2D (see all 45)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:0007126 | meiosis |
NAS | -- |
DMWD for ontologies About GeneDecksing
|
Drugs & Compounds
for DMWD 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 DMWD
Search CenterWatch for drugs/clinical trials and news about DMWD
|
Transcripts
for DMWD 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 DMWD gene: NM_004943.1 Unigene Cluster for DMWD: Dystrophia myotonica, WD repeat containing Hs.515474 [show with all ESTs]Unigene Representative Sequence: NM_0049433 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000377735(uc021uwc.1) ENST00000270223(uc002pdj.1 uc010eko.1)
ENST00000537879
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMWD (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMWD
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DMWD (NM_004943) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DMWD | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMWD |
Additional cDNA sequence: AK309497.1 BC019266.1 BC041034.1 BT006798.1 L19267.1 7 DOTS entries: DT.100747111 DT.100821288 DT.75100948 DT.97822256 DT.100031718 DT.100640724 DT.99969962 24/311 AceView cDNA sequences (see all 311): BM709254 CR597997 X62402 BF061846 BM893545 U46546 BE859030 BU177614 AW013881 AI686153 BX098437 CK823229 AW295677 BM677303 BI770992 AI493718 BC062553 AI379513 BM676858 BC019266 BM966765 BQ953617 AI659650 BQ070737
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for DMWD About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b |
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| SP1: | | | | | | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | |
ECgene alternative splicing isoforms for DMWD
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Expression
for DMWD 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
| DMWD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACTGGTCA
About this image
See DMWD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DMWD
SOURCE GeneReport for Unigene cluster: Hs.515474
UniProtKB/Swiss-Prot: DMWD_HUMAN, Q09019Tissue specificity: Strongest expression in brain, liver, and testis. Also expressed in kidney and spleen
SABiosciences Custom PCR Arrays for DMWD
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMWD
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMWD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMWD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMWD | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMWD |
Orthologs
for DMWD 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 eukaryotes.
Orthologs for DMWD gene from 7/20 species (see all 20) About this table
ENSEMBL Gene Tree for DMWD (if available)
TreeFam Gene Tree for DMWD (if available) |
Paralogs
for DMWD gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DMWD gene
- WDR202
2 SIMAP similar genes for DMWD using alignment to 5 protein entries: DMWD_HUMAN (see all proteins):WDR20 DKFZp686P0251
DMWD for paralogs About GeneDecksing
|
Genomic Variants
for DMWD 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DMWD (46286205 - 46296060 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DMWD: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DMWD |
|
Disorders
/ Diseases
for DMWD 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
|
DMWD for disorders About GeneDecksing
OMIM gene information: 609857
OMIM disorders: --
6  diseases for DMWD: About MalaCardstriple-a syndrome myotonic dystrophy type 1 myotonic dystrophy hepatocellular carcinoma
atherosclerosis carcinoma
1 disease from the University of Copenhagen DISEASES database for DMWD:Myotonic dystrophy Genetic Association Database (GAD): DMWD
Export disorders for DMWD gene to outside databases
|
Publications
for DMWD 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 DMWD gene, integrated from 9 sources (see all 27):
(articles sorted by number of sources associating them with DMWD) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
- Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. (PubMed id 10400997)1, 4 Alwazzan M....Brook J.D. (1999)
- Genomic organization and transcriptional units at the myotonic dystrophy locus. (PubMed id 7905855)1, 2 Shaw D.J....Brook J.D. (1993)
- Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. (PubMed id 8499920)1, 2 Mahadevan M.S.... Korneluk R.G. (1993)
- Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. (PubMed id 1302022)1, 3 Jansen G.... Wieringa B. (1992)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Regulation of histone H2A and H2B deubiquitination an d Xenopus development by USP12 and USP46. (PubMed id 21183687)1 Joo H.Y....Wang H. (2011)
- Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
- A germline-specific class of small RNAs binds mammali an Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (2006)
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External Searches for DMWD gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DMWD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DMWD gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DMWD 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 DMWD | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DMWD gene:
Search GeneIP for patents involving DMWD
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DMWD 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 DMWD | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DMWD | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMWD | | | OriGene Protein Over-expression Lysate for DMWD | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DMWD | | OriGene 3'-UTR Clone for DMWD | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMWD | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMWD | | | 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 DMWD | | OriGene Custom Protein Services for DMWD | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DMWD | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DMWD | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMWD | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMWD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMWD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMWD |
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 | | | DMWD Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMWD |
|  |  |  | | | | Search ThermoFisher Antibodies for DMWD |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMWD |
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