PRPF18 Gene
protein-coding GIFtS: 53
GCID: GC10P013628
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PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)(Previous name: PRP18 pre-mRNA processing factor 18 homolog (yeast) )
| |
Aliases for PRPF18 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| PRP18 Pre-MRNA Processing Factor 18 Homolog (S. Cerevisiae)1 2 | | Pre-MRNA-Splicing Factor 182 | | HPrp181 | | PRP18 Pre-MRNA Processing Factor 18 Homolog(PRPF18)2 | | PRP18 Homolog2 3 | | HPRP183 | | PRP182 5 | | HPRP183 | | PRP18 Pre-MRNA Processing Factor 18 Homolog (Yeast)1 | | |
Export aliases for PRPF18 gene to outside databasesPrevious GC identifers: GC10P013611 GC10P013779 GC10P013633 GC10P013669 GC10P013540 |
Summaries for PRPF18 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 PRPF18: Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to beessential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains sevenWD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeastsplicing factor Prp18. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: PRP18_HUMAN, Q99633Function: Participates in the second step of pre-mRNA splicing
|
Genomic Views for PRPF18 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_000010.10 NC_018921.1 NT_008705.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PRPF18 gene promoter: Bach1 LHX3b/Lhx3b GCNF SREBP-1c SREBP-1b E47 SREBP-1a POU2F1 POU2F1a LHX3a/Lhx3a Other transcription factors
Search SABiosciences Chromatin IP Primers for PRPF18
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPF18 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10p13 Ensembl cytogenetic band: 10p13 HGNC cytogenetic band: 10p12.33PRPF18 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P013628: view genomic region
(about GC identifiers)
Start:
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13,628,927 bp from pter |
End:
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13,672,868 bp from pter |
Size:
|
43,942 bases |
Orientation:
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plus strand |
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Proteins for PRPF18 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: PRP18_HUMAN, Q99633 (See
protein sequence)Recommended Name: Pre-mRNA-splicing factor 18 Size: 342 amino acids; 39860 Da
Subunit: Heterodimer with PPIH. Interacts with PRPF4 and with the spliceosome. Part of a complex containing U4/U6snRNPs
Subcellular location: Nucleus speckle (By similarity). Note=Colocalizes with spliceosomal snRNPs (By similarity)
1 PDB 3D structure from and Proteopedia for PRPF18:2DK4 (3D)
 
Secondary accessions: Q5T9P9 Q9BUI9Alternative splicing: 2 isoforms: Q99633-1 Q99633-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PRPF18: NX_Q99633
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q99633 PRPF18 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003666.1 ENSEMBL proteins: ENSP00000367835 ENSP00000392142 ENSP00000367824 Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
PRPF18 for ontologies About GeneDecksing
PRPF18 Antibody Products: Assay Products for PRPF18: |
Protein
Domains / Families for PRPF18 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PRPF18 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q99633ProtoNet protein and cluster: Q99633 UniProtKB/Swiss-Prot: PRP18_HUMAN, Q99633Similarity: Belongs to the PRP18 family |
Function for PRPF18 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: PRP18_HUMAN, Q99633Function: Participates in the second step of pre-mRNA splicing
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 PRPF18 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRPF18 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for PRPF18 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPF18  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF18 |
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:0019870 | potassium channel inhibitor activity |
-- | -- |
PRPF18 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PRPF18:
|
Pathways & Interactions for PRPF18 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
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | mRNA Splicing - Major Pathway | |
Pathway sources See GeneCards unified pathways Show all pathways
1 BioSystems Pathway for PRPF18 
1
Kegg Pathway (Kegg details for PRPF18):
PRPF18 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPF18
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
 3 Interacting proteins for PRPF18 (Q996333 ENSP000003678354) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
PRPF18 for ontologies About GeneDecksing
|
Drugs & Compounds for PRPF18 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 PRPF18 Search CenterWatch for drugs/clinical trials and news about PRPF18 / PRP18 
|
Transcripts for PRPF18 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 PRPF18 gene: NM_003675.3 Unigene Cluster for PRPF18: PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) Hs.729158 [show with all ESTs]Unigene Representative Sequence: NM_0036753 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000378572(uc001imp.3) ENST00000417658 ENST00000320054
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRPF18 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PRPF18 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: PRPF18 (NM_003675) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PRPF18 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPF18  |
Additional cDNA sequence: AF087997.1 AK314814.1 BC000794.1 BC002572.2 U51990.1 13 DOTS entries: DT.451218 DT.95369023 DT.100778395 DT.91753918 DT.121234467 DT.100778394 DT.100778397 DT.121234522 DT.410141 DT.102842957 DT.121234578 DT.100018012 DT.100891624 24/189 AceView cDNA sequences (see all 189): CB157880 CB119652 CR606297 BP339860 CA432267 BU852266 AF087997 BU627362 BM678451 BX647538 BU684142 BP342863 CA423849 BE502519 BM721939 BF057744 U51990 BF842509 BU616913 AL137400 BP368092 CA429508 CA429447 AA548354 GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for PRPF18 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for PRPF18
|
Expression for PRPF18 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
| PRPF18 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GGACCATTGA
About this image See PRPF18 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for PRPF18
SOURCE GeneReport for Unigene cluster: Hs.729158 SABiosciences Custom PCR Arrays for PRPF18
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRPF18 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PRPF18 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRPF18 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRPF18 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF18 |
Orthologs for PRPF18 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 PRPF18 gene from 8/32 species (see all 32) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
PRPF181 |
PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) |
80.99(n) 92.4(a) |
  |
419036 XM_417229.3 XP_417229.1 |
lizard (Anolis carolinensis) |
Reptilia |
PRPF186 |
-- |
92(a) |
1 → many |
5(90152592-90170726) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.136542 |
Xenopus laevis transcribed sequence with moderate similarity more |
77.59(n) |
  |
BX847050.1 |
zebrafish (Danio rerio) |
Actinopterygii |
BM316634.12 |
-- |
77.19(n) |
  |
BM316634.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
Prp181 , 3 |
mRNA splicing pre-mRNA splicing factor3 CG6011-PA1 |
51(a)3 55.46(n)1 52.55(a)1 |
  |
91E43 422851 NM_142519.11 NP_650776.11 |
worm (Caenorhabditis elegans) |
Secernentea |
F32B6.31 , 3 |
Human HPRP18 protein like3 Protein F32B6.31 |
38(a)3 49.95(n)1 40.73(a)1 |
  |
IV(9882376-9884456)3 1778401 NM_069375.31 NP_501776.21 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT1G031401 |
splicing factor Prp18-like protein |
48.67(n) 40.12(a) |
  |
839567 NM_100196.2 NP_563676.1 |
rice (Oryza sativa) |
Liliopsida |
Os07g05719001 |
hypothetical protein |
50.49(n) 42.34(a) |
  |
4343671 NM_001066589.1 NP_001060054.1 |
ENSEMBL Gene Tree for PRPF18 (if available) TreeFam Gene Tree for PRPF18 (if available)  |
Paralogs for PRPF18 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for PRPF18 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 10 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for PRPF18 (13628927 - 13672868 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for PRPF18 1 CNV: 4666  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRPF18 |
|
Disorders
/ Diseases for PRPF18 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
|
PRPF18 for disorders About GeneDecksing
OMIM gene information: 604993
OMIM disorders: --
6 diseases for PRPF18: About MalaCardspityriasis rubra pilaris palmoplantar keratosis exanthem keratosis alzheimer's disease malaria 3 diseases from the University of Copenhagen DISEASES database for PRPF18:Pityriasis rubra pilaris Exanthem Palmoplantar keratosis Human Genome Epidemiology (HuGE) Navigator: PRPF18 (2 documents) Export disorders for PRPF18 gene to outside databases
|
Publications for PRPF18 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 PRPF18 gene, integrated from 9 sources (see all 13): (articles sorted by number of sources associating them with PRPF18) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A human protein required for the second step of pre-mRNA splicing is functionally related to a yeast splicing factor. (PubMed id 9000057)1, 2, 3, 9 Horowitz D.S. and Krainer A.R. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A cyclophilin functions in pre-mRNA splicing. (PubMed id 11823439)1, 2 Horowitz D.S.... Misteli T. (2002)
- Solution structure of the splicing factor motif of the human Prp18 protein. (PubMed id 22213562)1 He F....Muto Y. (2012)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- 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)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for PRPF18 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PRPF18 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PRPF18 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PRPF18 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 PRPF18 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for PRPF18 gene: Search GeneIP for patents involving PRPF18
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for PRPF18 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
|
 | |
 | |
 |
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 | | PRPF18 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPF18 |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPF18 |
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