PKDREJ Gene
protein-coding GIFtS: 45
GCID: GC22M046651
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polycystic kidney disease (polycystin) and REJ homolog (sperm...(Previous names: polycystic kidney disease (polycystin) and REJ (sperm receptor...)
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Aliases
for PKDREJ gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Polycystic Kidney Disease (Polycystin) And REJ Homolog (Sperm Receptor ForEgg Jelly Homolog, Sea Urchin)1 2 | | PKD And REJ Homolog2 3 | | Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg JellyHomolog, Sea Urchin)-Like1 | | Polycystic Kidney Disease (Polycystin) And REJ (Sperm Receptor For Egg Jelly,Sea Urchin Homolog)-Like1 | | Polycystic Kidney Disease And Receptor For Egg Jelly-Related Protein2 |
Export aliases for PKDREJ gene to outside databasesPrevious GC identifers: GC22M043217 GC22M044863 GC22M044972 GC22M045030 GC22M029595 |
Summaries
for PKDREJ 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 PKDREJ:
This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembranedomains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and apolycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternativesplice variants have been described but their biological natures have not been determined. (provided by RefSeq, Jul2008)
UniProtKB/Swiss-Prot: PKDRE_HUMAN, Q9NTG1Function: May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved ininitiating the acrosome reaction of the sperm
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Genomic Views
for PKDREJ 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_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PKDREJ gene promoter:
ER-alpha AML1a HOXA5 IRF-7A SEF-1 (1) CUTL1 LCR-F1 Evi-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for PKDREJ
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PKDREJ |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q13.31 Ensembl cytogenetic band: 22q13.31 HGNC cytogenetic band: 22q13.31PKDREJ Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M046651: view genomic region
(about GC identifiers)
Start:
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46,651,560 bp from pter |
End:
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46,659,219 bp from pter |
Size:
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7,660 bases |
Orientation:
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minus strand |
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Proteins
for PKDREJ 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: PKDRE_HUMAN, Q9NTG1 (See
protein sequence)Recommended Name: Polycystic kidney disease and receptor for egg jelly-related protein precursor Size: 2253 amino acids; 255449 Da
Subunit: May form homomultimers or heteromultimers in combination with an as yet unidentified subunits
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B1AJY3 O95850Explore the universe of human proteins at neXtProt for PKDREJ: NX_Q9NTG1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NTG1
PKDREJ Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006062.1
ENSEMBL proteins: ENSP00000253255
Human Recombinant Protein Products for PKDREJ:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
PKDREJ for ontologies About GeneDecksing
PKDREJ Antibody Products:
Assay Products for PKDREJ: |
Protein
Domains /
Families
for PKDREJ gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PKDREJ for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q9NTG1ProtoNet protein and cluster: Q9NTG1 1 Blocks protein family: IPB002859 PKD/REJ-like protein
UniProtKB/Swiss-Prot: PKDRE_HUMAN, Q9NTG1Similarity: Belongs to the polycystin familySimilarity: Contains 1 PLAT domainSimilarity: Contains 1 REJ domain |
Function
for PKDREJ gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PKDRE_HUMAN, Q9NTG1Function: May have a central role in fertilization. May generate a Ca(2+) transporting channel directly involved ininitiating the acrosome reaction of the sperm Genatlas biochemistry entry for PKDREJ:receptor for egg jelly related gene,with extensive homology with PKD1,exclusively expressed in testis
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005216 | ion channel activity |
-- | -- | | GO:0005509 | calcium ion binding |
IEA | -- |
PKDREJ for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for PKDREJ:
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Pkdrej):
PKDREJ for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Pkdrejtm1Dgen for PKDREJ
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 PKDREJ (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKDREJ
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKDREJ |
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Pathways & Interactions
for PKDREJ 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
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PKDREJ
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table
PKDREJ for ontologies About GeneDecksing
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Drugs & Compounds
for PKDREJ 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 PKDREJ
Search CenterWatch for drugs/clinical trials and news about PKDREJ / PKDRE
|
Transcripts
for PKDREJ 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,
Sirion Biotech,
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 PKDREJ gene: NM_006071.1 Unigene Cluster for PKDREJ: Polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) Hs.241383 [show with all ESTs]Unigene Representative Sequence: AF1164581 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000253255(uc003bhh.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKDREJ (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKDREJ
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: PKDREJ (NM_006071) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PKDREJ | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKDREJ |
Additional cDNA sequence: AF116458.1 AL137288.1 BC027601.1 1 DOTS entry: DT.40220097 7 AceView cDNA sequences: AF116458 NM_006071 BX281259 AW191874 AA399163 AL137288 BC027601
GeneLoc Exon Structure
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Expression
for PKDREJ 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
| PKDREJ expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See PKDREJ Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PKDREJ
SOURCE GeneReport for Unigene cluster: Hs.241383
UniProtKB/Swiss-Prot: PKDRE_HUMAN, Q9NTG1Tissue specificity: Exclusively expressed in testis
SABiosciences Custom PCR Arrays for PKDREJ
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKDREJ
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PKDREJ | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PKDREJ | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PKDREJ | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKDREJ |
Orthologs
for PKDREJ 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
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This gene was present in the common ancestor of animals.
Orthologs for PKDREJ gene from 4/16 species (see all 16) About this table
ENSEMBL Gene Tree for PKDREJ (if available)
TreeFam Gene Tree for PKDREJ (if available) |
Paralogs
for PKDREJ gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PKDREJ gene
- PKD22 NPIPP12 PKD12 PKD2L22 PKD2L12 PKD1L12
PKDREJ for paralogs About GeneDecksing
|
Genomic Variants
for PKDREJ 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 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PKDREJ (46651560 - 46659219 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PKDREJ
1 CNV: 4133
1 Indel: 59078 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PKDREJ |
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Disorders
/ Diseases
for PKDREJ 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
|
PKDREJ for disorders About GeneDecksing
OMIM gene information: 604670
OMIM disorders: --
3  diseases for PKDREJ: About MalaCardspolycystic kidney disease kidney disease polycystic kidney disease 2
1 disease from the University of Copenhagen DISEASES database for PKDREJ:Polycystic kidney disease Export disorders for PKDREJ gene to outside databases
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Publications
for PKDREJ 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 PKDREJ gene integrated from 9 sources:
(articles sorted by number of sources associating them with PKDREJ) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. (PubMed id 9949214)1, 2, 3 Hughes J.... Harris P.C. (1999)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
- Polycystin channels and kidney disease. (PubMed id 11698076)1, 2 Stayner C. and Zhou J. (2001)
- Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). (PubMed id 10602361)1, 9 Veldhuisen B.... Peters D.J.M. (1999)
- Proteomics strategy to identify substrates of LNX, a P DZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)1 Guo Z....Gao Y. (2012)
- Evidence of Amino Acid Diversity-Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ. (PubMed id 17564962)1 Hamm D.... Swanson W.J. (2007)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (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)
- A third sea urchin sperm receptor for egg jelly module protein, suREJ2, concentrates in the plasma membrane over the sperm mitochondrion. (PubMed id 15008854)9 Galindo B.E....Vacquier V.D. (2004)
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External Searches for PKDREJ gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing PKDREJ 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 PKDREJ gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PKDREJ 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 PKDREJ | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for PKDREJ gene:
Search GeneIP for patents involving PKDREJ
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PKDREJ 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for PKDREJ | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PKDREJ | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PKDREJ | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PKDREJ | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PKDREJ | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PKDREJ | | | 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,
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 | | | PKDREJ Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKDREJ |
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