BARHL1 Gene
protein-coding GIFtS : 48
GCID: GC09 P135457
BarH-like homeobox 1 (Previous name: BarH (Drosophila)-like 1 )
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Aliasesfor BARHL1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases BarH-Like Homeobox 1 1 2 BarH (Drosophila)-Like 11 BarH-Like 1 Homeobox Protein2
Export aliases for BARHL1 gene to outside databases Previous GC identifers: GC09P126482 GC09P127014 GC09P128811 GC09P130734 GC09P132487 GC09P134447 GC09P104951
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Summariesfor BARHL1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section --
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Genomic Viewsfor BARHL1 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_000009.11 NC_018920.1 NT_035014.4 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BARHL1 gene promoter: C/EBPbeta Spz1 NRSF form 1 CUTL1 E4BP4 NRSF form 2 Other transcription factors Search SABiosciences Chromatin IP Primers for BARHL1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat BARHL1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.13 HGNC cytogenetic band: 9q34.13 BARHL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09P135457: view genomic region
(about GC identifiers )
Start:
135,457,572 bp from pter
End:
135,465,653 bp from pter
Size:
8,082 bases
Orientation:
plus strand
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Proteinsfor BARHL1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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: BARH1_HUMAN, Q9BZE3 (See
protein sequence )Recommended Name: BarH-like 1 homeobox protein Size : 327 amino acids; 35074 Da
Subcellular location : Nucleus (Probable)
Secondary accessions : Q5T6V2 Q9NY88Explore the universe of human proteins at neXtProt for BARHL1: NX_Q9BZE3 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9BZE3 BARHL1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_064448.1 ENSEMBL proteins: ENSP00000263610 ENSP00000444704 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:0005634 nucleus
IEA --
BARHL1 for ontologies About GeneDecksing BARHL1 Antibody Products: Assay Products for BARHL1:
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Protein
Domains / Familiesfor BARHL1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
BARHL1 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9BZE3 ProtoNet protein and cluster: Q9BZE3
1 Blocks protein family : IPB000047 Lambda and other repressor helix-turn-helix signature UniProtKB/Swiss-Prot: BARH1_HUMAN, Q9BZE3 Similarity : Belongs to the BAR homeobox familySimilarity : Contains 1 homeobox DNA-binding domain
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Functionfor BARHL1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 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 BARHL1 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BARHL1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BARHL1 (NM_020064 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BARHL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BARHL1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BARHL1
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
IEA -- GO:0003700 sequence-specific DNA binding transcription factor activity
-- -- GO:0043565 sequence-specific DNA binding
IEA --
BARHL1 for ontologies About GeneDecksing Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Barhl1) :
BARHL1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor BARHL1 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 BARHL1 STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)5/6 Interacting proteins for BARHL1 (Q9BZE3 3 ENSP00000263610 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 6 )About this table Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0001764 neuron migration
IEA -- GO:0006351 transcription, DNA-dependent
-- -- GO:0007605 sensory perception of sound
IEA -- GO:0030901 midbrain development
IEA -- GO:0043524 negative regulation of neuron apoptotic process
IEA --
BARHL1 for ontologies About GeneDecksing
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Drugs & Compoundsfor BARHL1 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 BARHL1 Search CenterWatch for drugs/clinical trials and news about BARHL1 / BARH1
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Transcriptsfor BARHL1 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 BARHL1 gene: NM_020064.3 Unigene Cluster for BARHL1:
BarH-like homeobox 1 Hs.283809 [show with all ESTs ] Unigene Representative Sequence: NM_020064 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000263610 (uc004cbp.1 ) ENST00000542090 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for BARHL1 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for BARHL1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: BARHL1 (NM_020064 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BARHL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat BARHL1
Additional cDNA sequence: AF321618.1 AF325688.1 AK054797.1 BC136956.1 BC136969.1 BC144433.1
1 DOTS entry : DT.75136584
6 AceView cDNA sequences :
AF321618 NM_020064 AI367090 AK054797 AF325688 BX281517 GeneLoc Exon Structure
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Expression for BARHL1 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 BARHL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AGCCCGTGAC
About this image BARHL1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See BARHL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BARHL1 SOURCE GeneReport for Unigene cluster: Hs.283809 SABiosciences Custom PCR Arrays for BARHL1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for BARHL1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat BARHL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BARHL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BARHL1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BARHL1
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Orthologsfor BARHL1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 BARHL1 gene from 5/17 species (see all 17 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
lizard (Anolis carolinensis)
Reptilia
BARHL16
--
67(a)
1 ↔ 1
AAWZ02039460(5285-8384)
African clawed frog (Xenopus laevis)
Amphibia
barh2-A-prov2
Bar homeobox protein 2
75.25(n)
 
AF283692.1
zebrafish (Danio rerio)
Actinopterygii
barhl1b1
BarH-like 1b
72.57(n) 82.28(a)
 
553186 XM_677740.5 XP_682832.1
fruit fly (Drosophila melanogaster)
Insecta
B-H13
specific RNA polymerase II transcription factor
68(a) (best of 2)
 
16A5 --
worm (Caenorhabditis elegans)
Secernentea
ceh-316 ceh-306
Homeobox protein ceh-30
26(a) 24(a)
many ↔ manymany ↔ many
X(3068638-3070386) X(3063575-3065541)
ENSEMBL Gene Tree for BARHL1 (if available)TreeFam Gene Tree for BARHL1 (if available)
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Paralogsfor BARHL1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for BARHL1 gene DLX2 2 BARX1 2 BSX 2 DLX5 2 DLX6 2 BARHL2 2 DLX4 2 BARX2 2 DLX1 2 MSX2 2 MSX1 2 DLX3 2 9 SIMAP similar genes for BARHL1 using alignment to 2 protein entries: BARH1_HUMAN (see all proteins ):HMX2 NKX2-5 HLX MEOX1 BARHL2 HOXA4 HOXB1 RAX2 DLX3
BARHL1 for paralogs About GeneDecksing
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Genomic Variantsfor BARHL1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 9 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for BARHL1 (135457572 - 135465653 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for BARHL1: --
SABiosciences Cancer Mutation PCR Assays
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Disorders
/ Diseasesfor BARHL1 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
BARHL1 for disorders About GeneDecksing
OMIM gene information: 605211
OMIM disorders : --3 diseases for BARHL1 : About MalaCards joubert syndrome medulloblastoma neuronitis Export disorders for BARHL1 gene to outside databases
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Publicationsfor BARHL1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for BARHL1 gene, integrated from 9 sources (see all 12 ): (articles sorted by number of sources associating them with BARHL1) Utopia : connect your pdf to the dynamic world of online information
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. (PubMed id 10814725) 1 , 2 Bulfone A.... Banfi S. (2000) Expression of BARHL1 in medulloblastoma is associated with prolonged survival in mice and humans. (PubMed id 21602885) 1 PAPschl J....SchA1ller U. (2011) An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142) 1 Ravasi T....Hayashizaki Y. (2010) Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348) 1 Barbe L....Andersson-Svahn H. (2008) Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931) 1 Ewing R.M.... Figeys D. (2007) Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (PubMed id 15487006) 2 Gould D.B. and Walter M.A. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) DNA sequence and analysis of human chromosome 9. (PubMed id 15164053) 2 Humphray S.J.... Dunham I. (2004) 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 BARHL1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing BARHL1 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 BARHL1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing BARHL1 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 BARHL1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for BARHL1 gene: Search GeneIP for patents involving BARHL1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor BARHL1 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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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BARHL1 Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BARHL1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat BARHL1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat BARHL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat BARHL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat BARHL1
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BARHL1 Proteins, Antibodies, CLIAs, and ELISAs
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Aliases for BARHL1
Databases for BARHL1
Disorders / Diseases for BARHL1
Domains / Families for BARHL1
Drugs / Compounds for BARHL1
Expression for BARHL1
Function for BARHL1
Genomic Views for BARHL1
Intellectual Property for BARHL1
Orthologs for BARHL1
Paralogs for BARHL1
Pathways / Interactions for BARHL1
Products for BARHL1
Proteins for BARHL1
Publications for BARHL1
Search Box for BARHL1
Summaries for BARHL1
Transcripts for BARHL1
Variants for BARHL1
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