ARVCF Gene
protein-coding GIFtS: 51
GCID: GC22M019957
|
|
armadillo repeat gene deleted in velocardiofacial syndrome
| |
Aliases for ARVCF gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Armadillo Repeat Gene Deleted In Velocardiofacial Syndrome1 2 | | Armadillo Repeat Protein Deleted In Velo-Cardio-Facial Syndrome2 |
Export aliases for ARVCF gene to outside databasesPrevious GC identifers: GC22M016897 GC22M018331 GC22M003577 |
Summaries for ARVCF 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 ARVCF: Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This familyplays an important role in the formation of adherens junction complexes, which are thought to facilitate communicationbetween the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the geneticdefect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorderwith phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF geneencodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence inthe midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in aprotein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have afunction as a nuclear protein. (provided by RefSeq, Jun 2010) UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192Function: Involved in protein-protein interactions at adherens junctions Gene Wiki entry for ARVCF
|
Genomic Views for ARVCF 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
| Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ARVCF gene promoter: HTF RelA LCR-F1 NF-kappaB HEN1 NF-kappaB2 STAT3 NF-kappaB1 Other transcription factors
Search SABiosciences Chromatin IP Primers for ARVCF
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARVCF |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q11.21 Ensembl cytogenetic band: 22q11.21 HGNC cytogenetic band: 22q11.21ARVCF 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 GC22M019957: view genomic region
(about GC identifiers)
Start:
|
19,957,402 bp from pter |
End:
|
20,004,331 bp from pter |
Size:
|
46,930 bases |
Orientation:
|
minus strand |
|
Proteins for ARVCF 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: ARVC_HUMAN, O00192 (See
protein sequence)Recommended Name: Armadillo repeat protein deleted in velo-cardio-facial syndrome Size: 962 amino acids; 104642 Da
Subunit: Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain)
Secondary accessions: B7WNV2Alternative splicing: 2 isoforms: O00192-1 O00192-2 Explore the universe of human proteins at neXtProt for ARVCF: NX_O00192
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00192 ARVCF Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001661.1 ENSEMBL proteins: ENSP00000263207 ENSP00000384341 ENSP00000384732 ENSP00000385444 ENSP00000342042 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ARVCF for ontologies About GeneDecksing
ARVCF Antibody Products: Assay Products for ARVCF: |
Protein
Domains / Families for ARVCF gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARVCF for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O00192ProtoNet protein and cluster: O00192 1 Blocks protein family: IPB000225 Armadillo repeat
UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192Similarity: Belongs to the beta-catenin familySimilarity: Contains 10 ARM repeats |
Function for ARVCF 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: ARVC_HUMAN, O00192Function: Involved in protein-protein interactions at adherens junctions Genatlas biochemistry entry for ARVCF:Drosophila armadillo repeat gene homolog,catenin family,ubiquitously expressed,involved in protein-protein interactionat adherens juctions,deleted in the velocardiofacial syndrome
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 ARVCF (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARVCF 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 ARVCF |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
ARVCF for ontologies About GeneDecksing
Animal Models: Mouse knock-out Arvcftm1Ais for ARVCF 3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Arvcf):
ARVCF for phenotypes About GeneDecksing
|
Pathways & Interactions for ARVCF 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:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARVCF
STRING Interaction
Network Preview (showing 5 interactants - click image to see 10)
 5/11 Interacting proteins for ARVCF (O001923 ENSP000002632074) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
ARVCF for ontologies About GeneDecksing
|
Drugs & Compounds for ARVCF 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
|
ARVCF for compounds About GeneDecksing
Browse Tocris compounds for ARVCF 1 PharmGKB related drug/compound annotation for ARVCF gene
| Drug/compound |
PharmGKB Annotation | | bupropion | CA   | About this table
Search CenterWatch for drugs/clinical trials and news about ARVCF / ARVC 
|
Transcripts for ARVCF 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 ARVCF gene: NM_001670.2 12 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000263207(uc002zqz.3) ENST00000495096(uc002zqy.3) ENST00000401994 ENST00000406522 ENST00000406259 ENST00000480792 ENST00000473551 ENST00000487793 ENST00000492625 ENST00000462319 ENST00000467828 ENST00000344269
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARVCF (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARVCF OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for ARVCF | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARVCF  |
24/123 AceView cDNA sequences (see all 123): BF513398 CD674705 CR623754 AL044705 BU542504 CR590273 NM_001670 BQ709901 BU074493 BQ882055 CA843805 BE872926 AI985156 CA487755 BU543609 BQ898396 AI124083 CA843052 CD673621 U51269 BU617917 BX369937 BE734190 BM546517 GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ARVCF (see all 9) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | · | 7f | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | |
| SP1: | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for ARVCF
|
Expression for ARVCF 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
| ARVCF expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See ARVCF Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ARVCF UniProtKB/Swiss-Prot: ARVC_HUMAN, O00192Tissue specificity: Found in all the examined tissues including heart, brain, liver and kidney. Found at low level inlung SABiosciences Expression via Pathway-Focused PCR Array including ARVCF:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARVCF Browse OriGene validated miRNA SYBR primer pairs
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| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARVCF |
Orthologs for ARVCF 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 ARVCF gene from 5/18 species (see all 18) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
ARVCF1 |
armadillo repeat gene deleted in velocardiofacial syndrome |
67.86(n) 70.86(a) |
  |
395119 NM_204465.1 NP_989796.1 |
African clawed frog (Xenopus laevis) |
Amphibia |
AF287051.12 |
-- |
74.83(n) |
  |
AF287051.1 |
zebrafish (Danio rerio) |
Actinopterygii |
570966162 |
-- |
74.56(n) |
  |
57096616 |
fruit fly (Drosophila melanogaster) |
Insecta |
p120ctn3 |
-- |
45(a) |
  |
-- |
worm (Caenorhabditis elegans) |
Secernentea |
jac-13 |
-- |
34(a) |
  |
IV(15998290-16017650) -- |
ENSEMBL Gene Tree for ARVCF (if available) TreeFam Gene Tree for ARVCF (if available)  |
Paralogs for ARVCF gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for ARVCF gene
- PKP22 PKP12 CTNND12 PKP32 CTNND22 PKP42
6 SIMAP similar genes for ARVCF using alignment to 5 protein entries: ARVC_HUMAN (see all proteins):DKFZp781O2021 CTNND1 ps1ly2h-25 CTNND2 PKP1 PKP4
ARVCF for paralogs About GeneDecksing
|
Genomic Variants for ARVCF 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 ARVCF (19957402 - 20004331 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for ARVCF 4 CNVs: 73719 2261 5168 31071 Human Gene Mutation Database (HGMD): ARVCF
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARVCF |
|
Disorders
/ Diseases for ARVCF 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
|
ARVCF for disorders About GeneDecksing
OMIM gene information: 602269
OMIM disorders: --
12 diseases for ARVCF: About MalaCardscleft palate velocardiofacial syndrome spinocerebellar ataxia type 10 spinocerebellar ataxia anorexia nervosa renal cell carcinoma ependymoma ataxia kidney disease schizophrenia carcinoma neuronitis 2 diseases from the University of Copenhagen DISEASES database for ARVCF:Velocardiofacial syndrome Schizophrenia 2 Novoseek disease relationships for ARVCF gene About this table
Human Genome Epidemiology (HuGE) Navigator: ARVCF (10 documents) Export disorders for ARVCF gene to outside databases
|
Publications for ARVCF 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 ARVCF gene, integrated from 9 sources (see all 61): (articles sorted by number of sources associating them with ARVCF) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. (PubMed id 9126485)1, 2, 3, 9 Sirotkin H.... Kucherlapati R. (1997)
- PDZ-domain-directed basolateral targeting of the peri pheral membrane protein FRMPD2 in epithelial cells. (PubMed id 19706687)1, 2 Stenzel N....Erdmann K.S. (2009)
- Association of ARVCF with zonula occludens (ZO)-1 and ZO-2: binding to PDZ-domain proteins and cell-cell adhesion regulate plasma me mbrane and nuclear localization of ARVCF. (PubMed id 15456900)1, 3 Kausalya P.J....Hunziker W. (2004)
- ARVCF localizes to the nucleus and adherens junction and is mutually exclusive with p120(ctn) in E-cadherin complexes. (PubMed id 10725230)1, 9 Mariner D.J....Reynolds A.B. (2000)
- Differential expression pattern of protein ARVCF in nephron segments of human and mouse kidney. (PubMed id 18600340)1, 9 Walter B....Hofmann I. (2008)
- The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF. (PubMed id 11821434)1, 9 Laura R.P.... Lasky L.A. (2002)
- Expression of ARVCF in the human ganglionic eminence during fetal development. (PubMed id 15509897)1, 9 Ulfig N. and Chan W.Y. (2004)
- ARVCF single marker and haplotypic association with s chizophrenia. (PubMed id 19508883)1, 9 Mas S....Lafuente A. (2009)
- Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning an d working memory in mice. (PubMed id 19617637)1, 9 Suzuki G....Hiroi N. (2009)
- No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics. (PubMed id 18198266)1, 9 Sanders A.R....Gejman P.V. (2008)
|
External Searches for ARVCF gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ARVCF gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ARVCF gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ARVCF 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 ARVCF | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ARVCF gene: Search GeneIP for patents involving ARVCF
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for ARVCF 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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 | |
 |
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