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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RASGEF1B Gene

protein-coding GIFtS: 48
GCID: GC04M082348

RasGEF domain family, member 1B

Explore 1 disease affiliated with
RASGEF1B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
RasGEF Domain Family, Member 1B¹ ²
GPIG4¹ ² ³
GPI Gamma-4² ³
FLJ31695¹
GPI-Gamma 4²
Ras-GEF Domain-Containing Family Member 1B²

External Ids:	HGNC: 24881¹	Entrez Gene: 153020²	Ensembl: ENSG00000138670⁷	OMIM: 614532⁵	UniProtKB: Q0VAM2³

Export aliases for RASGEF1B gene to outside databases

Previous GC identifers: GC04M082806 GC04M082705 GC04M082567 GC04M078092

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RGF1B_HUMAN, Q0VAM2

Function: Guanine nucleotide exchange factor (GEF) with specificity for RAP2A and other Ras family proteins (in vitro)

(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_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RASGEF1B gene promoter:
Sox5 ATF-2 CUTL1 AP-2gamma Evi-1 POU2F1 FOXO4 POU2F1a FOXO1a FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RASGEF1B promoter sequence

Search SABiosciences Chromatin IP Primers for RASGEF1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RASGEF1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q21.21 Ensembl cytogenetic band: 4q21.21 HGNC chromosome: 4

RASGEF1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASGEF1B gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M082348: view genomic region (about GC identifiers)

Start:	82,347,547 bp from pter	End:	82,393,082 bp from pter
Size:	45,536 bases	Orientation:	minus strand

(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: RGF1B_HUMAN, Q0VAM2 (See protein sequence)

Recommended Name: Ras-GEF domain-containing family member 1B

Size: 473 amino acids; 55359 Da

Subunit: Interacts with Ras family proteins (By similarity)

Subcellular location: Early endosome (By similarity). Late endosome (By similarity). Note=May shuttle between early and

late endosomes (By similarity)

Secondary accessions: Q0VAM1 Q4W5L7 Q4W5M3 Q96MY8

Alternative splicing: 3 isoforms: Q0VAM2-1 Q0VAM2-2 Q0VAM2-3

Explore the universe of human proteins at neXtProt for RASGEF1B: NX_Q0VAM2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q0VAM2

RASGEF1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689758.1

ENSEMBL proteins:

ENSP00000425393 ENSP00000264400 ENSP00000338437 ENSP00000426929 ENSP00000398763

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005769	early endosome	IEA	--
GO:0005770	late endosome	IEA	--

RASGEF1B for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RASGEF1B for domains About GeneDecksing

5 InterPro domains/families:

IPR008937 Ras_GEF

IPR023578 Ras_GEF_dom

IPR001895 RasGRF_CDC25

IPR019804 Ras_G-nucl-exch_fac_CS

IPR000651 Ras-like_Gua-exchang_fac_N

Graphical View of Domain Structure for InterPro Entry Q0VAM2

ProtoNet protein and cluster: Q0VAM2

1 Blocks protein family: IPB001895 Guanine-nucleotide dissociation stimulator CDC25

UniProtKB/Swiss-Prot: RGF1B_HUMAN, Q0VAM2

Similarity: Contains 1 N-terminal Ras-GEF domain

Similarity: Contains 1 Ras-GEF domain

(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: RGF1B_HUMAN, Q0VAM2

Function: Guanine nucleotide exchange factor (GEF) with specificity for RAP2A and other Ras family proteins (in vitro)

Induction: Up-regulated in macrophages stimulated with IFNG, GPI-mucins or bacterial lipopolysaccharides (LPS)

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In Situ Assay
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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:0005085	guanyl-nucleotide exchange factor activity	--	--
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IDA	19645719

RASGEF1B for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for RASGEF1B:

Increased cell number in G1, a

(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 Central^TM Interacting Genes and Proteins Networks for RASGEF1B

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007264	small GTPase mediated signal transduction	IEA	--
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	--

RASGEF1B for ontologies About GeneDecksing

(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

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Browse Tocris compounds for RASGEF1B

3 HMDB Compounds for RASGEF1B About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Search CenterWatch for drugs/clinical trials and news about RASGEF1B / RGF1B

(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,
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About This Section

REFSEQ mRNAs for RASGEF1B gene:

NM_152545.1

Unigene Cluster for RASGEF1B:

RasGEF domain family, member 1B

Hs.591696 [show with all ESTs]

Unigene Representative Sequence: BX648337

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000509081 ENST00000264400(uc003hmi.1 uc003hmj.1 uc010ijq.1)

ENST00000335927 ENST00000504863 ENST00000436139(uc003hmk.3) ENST00000514889

ENST00000507538

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Additional cDNA sequence:

AK056257.1 AK291459.1 AK303625.1 BC036784.1 BC121003.1 BC121004.1 BX648337.1

5 DOTS entries:

DT.70100308 DT.101965900 DT.99932981 DT.40232024 DT.95194801

21 AceView cDNA sequences:

NM_152545 AK056257 CA444856 CA305891 AI379474 AW444812 BM455562 BM742022

CA307173 BG740692 CB130147 BX279621 AA327467 BC036784 BX648337 BM549797

AW082493 BU430765 BI041319 CA396061 AV733616

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for RASGEF1B About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11	^	12	^	13	^	14
SP1:													-						-
SP2:													-						-
SP3:													-						-
SP4:													-
SP5:

ECgene alternative splicing isoforms for RASGEF1B

(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

RASGEF1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAATCACAG

About this image

RASGEF1B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Zeugopod

Prechondrocytic Mesenchymal Cells

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RASGEF1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RASGEF1B

SOURCE GeneReport for Unigene cluster: Hs.591696

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In Situ
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(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 RASGEF1B gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RASGEF1B¹	RasGEF domain family, member 1B	82.38(n) 92.81(a)		100859744 XM_003641169.1 XP_003641217.1
lizard (Anolis carolinensis)	Reptilia	RASGEF1B⁶	--	82(a)	1 ↔ 1	5(42562650-42577010)
African clawed frog (Xenopus laevis)	Amphibia	BJ069621.1²	--	78.99(n)		BJ069621.1
zebrafish (Danio rerio)	Actinopterygii	BC055678.1²	--	75.69(n)		327572 BC055678.1
fruit fly (Drosophila melanogaster)	Insecta	CG7369¹	CG7369	54.83(n) 51.73(a)		2768961 NM_141158.3 NP_649415.2
worm (Caenorhabditis elegans)	Secernentea	R05G6.10¹	Protein R05G6.10	51.62(n) 40.9(a)		177527 NM_068816.3 NP_501217.2

ENSEMBL Gene Tree for RASGEF1B (if available)
TreeFam Gene Tree for RASGEF1B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RASGEF1B gene

RAPGEF2² RAPGEFL1² RAPGEF6² RASGEF1A² RAPGEF3² RASGEF1C² RAPGEF4² RAPGEF5²

2 SIMAP similar genes for RASGEF1B using alignment to 3 protein entries: RGF1B_HUMAN (see all proteins):

RASGEF1C RASGEF1A

RASGEF1B for paralogs About GeneDecksing

(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

Human Gene Mutation Database (HGMD): RASGEF1B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RASGEF1B

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(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

RASGEF1B for disorders           About GeneDecksing

OMIM gene information: 614532    OMIM disorders: --

1 disease for RASGEF1B:    About MalaCards

myocarditis

Export disorders for RASGEF1B gene to outside databases

(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 RASGEF1B gene integrated from 9 sources:
(articles sorted by number of sources associating them with RASGEF1B)

Utopia: connect your pdf to the dynamic
world of online information

Identification and characterization of a novel mouse gene encoding a Ras-associated guanine nucleotide exchange factor: expression in macrophages and myocarditis elicited by Trypanosoma cruzi parasites. (PubMed id 12488504)^{1, 2, 3} Ferreira L.R.P.... Gazzinelli R.T. (2002)
RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-sp ecific nucleotide exchange. (PubMed id 19645719)^{1, 2} Yaman E....Tazebay U.H. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnor malities and facial dysmorphism. (PubMed id 22303795)¹ Lipska B.S....Limon J. (2011)
Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)¹ Gudbjartsson D.F....Stefansson K. (2008)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 153020	HGNC: 24881	AceView: RASGEF1B	Ensembl:ENSG00000138670	euGenes: HUgn153020
ECgene: RASGEF1B	H-InvDB: RASGEF1B

(According to HUGE)
About This Section

(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 RASGEF1B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RASGEF1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RASGEF1B gene:
Search GeneIP for patents involving RASGEF1B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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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	OriGene siRNA for RASGEF1B		OriGene 3'-UTR Clone for RASGEF1B
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RASGEF1B		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RASGEF1B
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RASGEF1B
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	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RASGEF1B
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	GenScript Custom Purified and Recombinant Proteins Services for RASGEF1B		GenScript cDNA clones with any tag delivered in your preferred vector for RASGEF1B
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RASGEF1B

	SwitchGear 3'UTR luciferase reporter plasmids for RASGEF1B
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ThermoFisher Antibody for RASGEF1B

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RASGEF1B

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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RASGEF1B Gene

RasGEF domain family, member 1B

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RASGEF1B Gene

RasGEF domain family, member 1B

Aliasesfor RASGEF1B gene

Summariesfor RASGEF1B gene

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External Searches for RASGEF1B gene

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for RASGEF1B gene

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for RASGEF1B gene

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for RASGEF1B gene

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for RASGEF1B gene

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