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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ISM1 Gene

protein-coding GIFtS: 41
GCID: GC20P013202

isthmin 1 homolog (zebrafish)

(Previous name: chromosome 20 open reading frame 82 )
(Previous symbol: C20orf82)

Explore 10 diseases affiliated with
ISM1 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
Isthmin 1 Homolog (Zebrafish)¹ ²		Chromosome 20 Open Reading Frame 82¹
C20orf82¹ ² ³		Isthmin²
BA149I18.1¹		DJ1077I2.1¹
ISM² ³		Isthmin-1¹

External Ids:	HGNC: 16213¹	Entrez Gene: 140862²	Ensembl: ENSG00000101230⁷	UniProtKB: B1AKI9³

Export aliases for ISM1 gene to outside databases

Previous GC identifer: GC20P013150

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

(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_000020.10 NC_018931.1 NT_011387.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ISM1 gene promoter:
GR AML1a Sp1 Pax-5 GR-beta p300 Olf-1 Egr-2 ARP-1 GR-alpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for ISM1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ISM1

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

Entrez Gene cytogenetic band: 20p12.1 Ensembl cytogenetic band: 20p12.1 HGNC cytogenetic band: 20p12.1

ISM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISM1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P013202: view genomic region (about GC identifiers)

Start:	13,202,418 bp from pter	End:	13,281,298 bp from pter
Size:	78,881 bases	Orientation:	plus 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: ISM1_HUMAN, B1AKI9 (See protein sequence)

Recommended Name: Isthmin-1 precursor

Size: 464 amino acids; 52107 Da

Subcellular location: Secreted (Potential)

Sequence caution: Sequence=CAC16127.3; Type=Erroneous gene model prediction; Sequence=CAC36074.2; Type=Erroneous gene

model prediction; Sequence=EAX10318.1; Type=Erroneous gene model prediction;

Secondary accessions: Q8WVH9

Explore the universe of human proteins at neXtProt for ISM1: NX_B1AKI9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_B1AKI9

ISM1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_543016.1

ENSEMBL proteins:

ENSP00000409938 ENSP00000262487

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	Uscn Proteins for ISM1

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:0005576	extracellular region	IEA	--

ISM1 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

ISM1 for domains About GeneDecksing

2 InterPro domains/families:

IPR000884 Thrombospondin_1_rpt

IPR005533 AMOP

Graphical View of Domain Structure for InterPro Entry B1AKI9

ProtoNet protein and cluster: B1AKI9

UniProtKB/Swiss-Prot: ISM1_HUMAN, B1AKI9

Similarity: Belongs to the isthmin family

Similarity: Contains 1 AMOP domain

Similarity: Contains 1 TSP type-1 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

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		hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-507 hsa-miR-372 hsa-miR-93 hsa-miR-508-5p hsa-miR-23a

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1 GenomeRNAi human phenotype for ISM1:

Decreased Wnt reporter activit

(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 ISM1

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about ISM1

(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,
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About This Section

REFSEQ mRNAs for ISM1 gene:

NM_080826.1

Unigene Cluster for ISM1:

Isthmin 1 homolog (zebrafish)

Hs.559353 [show with all ESTs]

Unigene Representative Sequence: NM_080826

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

ENST00000447521 ENST00000262487(uc010gce.1)

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Additional cDNA sequence:

AK307409.1 BC017997.1

4 DOTS entries:

DT.97796194 DT.219229 DT.100741069 DT.75185749

24/28 AceView cDNA sequences (see all 28):

AI082824 AV708785 BF971101 CA406451 AI346444 BM932119 AI886394 BM978234

AA633473 W86257 BC017997 CB989845 W07772 AK095658 BQ771595 CB961129

AI191256 AL732077 AI816793 AK074473 BF437897 CF994326 R19947 BQ370885

GeneLoc Exon Structure

(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

ISM1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTAGCAGG

About this image

ISM1 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)

Brain

Blood Brain Barrier

Postnatal Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

Bone, Cartilage

See ISM1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ISM1

SOURCE GeneReport for Unigene cluster: Hs.559353

SABiosciences Custom PCR Arrays for ISM1

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In Situ
Assay Products:

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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 ISM1 gene from 6/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ism1^{1 , 5}	isthmin 1 homolog (zebrafish)^{1, 5}	89.43(n)¹ 94.05(a)¹		2 (69.06 cM)⁵ 319909¹ NM_001126490.1¹ NP_001119962.1¹ 139678178⁵
chicken (Gallus gallus)	Aves	ISM1¹	isthmin 1 homolog (zebrafish)	75.52(n) 84.69(a)		416740 XM_415036.3 XP_415036.3
lizard (Anolis carolinensis)	Reptilia	ISM1⁶	--	82(a)	1 ↔ 1	1(129099163-129110689)
African clawed frog (Xenopus laevis)	Amphibia	Ism²	secreted protein Isthmin	76.86(n)		AY091635.1
zebrafish (Danio rerio)	Actinopterygii	ism1¹	isthmin 1	67.77(n) 70.04(a)		497617 NM_001012376.1 NP_001012376.1
honey bee (Apis mellifera)	Insecta	--	--	11(a)	1 → many	Group4.4(764719-777756)

ENSEMBL Gene Tree for ISM1 (if available)
TreeFam Gene Tree for ISM1 (if available)

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

Paralogs for ISM1 gene

ISM2²

1 SIMAP similar gene for ISM1 using alignment to 1 protein entry: ISM1_HUMAN:

ISM2

ISM1 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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140039864^1,2		--	13200624(+)	`CCGTCA/TAGAAA`	1	--	us2k¹		0	--	--	--	--
rs112175150^1,2		--	13200882(+)	`TCCGAG/CTCACT`	1	--	us2k¹		1		CSA	2
rs117894177^1,2		--	13200942(+)	`CACGGA/TCCGAC`	1	--	us2k¹		1		NA	120
rs59258634^1,2	F,	--	13201111(+)	`GACGCC/TAGCCC`	1	--	us2k¹		2		WA EA	238
rs34502335^1,2	C,F,	--	13201177(+)	`CACTAA/C/GAGCTG`	1	--	us2k¹		9		NA CSA WA	251
rs35907305^1,2	C,F,	--	13201238(+)	`CAGCTT/CCCAGC`	1	--	us2k¹		9		NA CSA WA EA	369
rs183644632^1,2		--	13201290(+)	`GACTCC/GCCTCC`	1	--	us2k¹		0	--	--	--	--
rs188355112^1,2		--	13201304(+)	`CCCAGA/GCTCTA`	1	--	us2k¹		0	--	--	--	--
rs182280301^1,2		--	13201335(+)	`AACAGA/CCGTGC`	1	--	us2k¹		0	--	--	--	--
rs6041958^1,2	C	--	13201434(+)	`TCGCAG/AGCAGA`	1	--	us2k¹		2		NA	4

HapMap Linkage Disequilibrium report for ISM1 (13202418 - 13281298 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ISM1
3 CNVs: 67655 90474 73470

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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

ISM1 for disorders About GeneDecksing

10 diseases for ISM1: About MalaCards

sm-ahnmd spinal cord disease mast-cell sarcoma mast-cell leukemia

systemic mastocytosis mastocytosis t-cell leukemia parkinson's disease

sarcoma leukemia

2 diseases from the University of Copenhagen DISEASES database for ISM1:

mast-cell leukemia Systemic mastocytosis

Export disorders for ISM1 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 ISM1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ISM1)

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

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)
Isthmin is a novel secreted protein expressed as part of the Fgf-8 synexpression group in the Xenopus midbrain-hindbrain organizer. (PubMed id 12128218)^{1, 2} Pera E.M....De Robertis E.M. (2002)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Isthmin exerts pro-survival and death-promoting effect on endothelial cells through alphavbeta5 integrin depending on its physical sta te. (PubMed id 21544092)¹ Zhang Y....Ge R. (2011)
Genome-wide association study reveals genetic risk un derlying Parkinson's disease. (PubMed id 19915575)¹ SimA^n-SA!nchez J....Gasser T. (2009)
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)
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: 140862	HGNC: 16213	AceView: C20orf82	Ensembl:ENSG00000101230	euGenes: HUgn140862
ECgene: ISM1	H-InvDB: ISM1

(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 ISM1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ISM1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ISM1 gene:
Search GeneIP for patents involving ISM1

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),
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About This Section


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	GenScript Custom overexpressing Cell Line Services for ISM1		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

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

Hot genes Disease genes ISM1 gene at Home site.

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ISM1 Gene

isthmin 1 homolog (zebrafish)

Aliases
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for ISM1 gene

Protein Domains /
Families
for ISM1 gene

Function
for ISM1 gene

Pathways & Interactions
for ISM1 gene

Drugs & Compounds
for ISM1 gene

Transcripts
for ISM1 gene

Expression
for ISM1 gene

Orthologs
for ISM1 gene

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for ISM1 gene

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for ISM1 gene

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for ISM1 gene

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for ISM1 gene

External Searches for ISM1 gene

Genome Databases showing ISM1 gene

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for ISM1 gene

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View Random Gene

Advanced Search

Export list of displayed genes

ISM1 Gene

isthmin 1 homolog (zebrafish)

Aliasesfor ISM1 gene

Summariesfor ISM1 gene

Genomic Viewsfor ISM1 gene

Proteinsfor ISM1 gene

Protein Domains /Familiesfor ISM1 gene

Functionfor ISM1 gene

Pathways & Interactionsfor ISM1 gene

Drugs & Compoundsfor ISM1 gene

Transcriptsfor ISM1 gene

Expression for ISM1 gene

Orthologsfor ISM1 gene

Paralogsfor ISM1 gene

Genomic Variantsfor ISM1 gene

Disorders / Diseasesfor ISM1 gene

Publicationsfor ISM1 gene

External Searches for ISM1 gene

Genome Databases showing ISM1 gene

Other Databases showing ISM1 gene

Specialized Databases showing ISM1 gene

Intellectual Propertyfor ISM1 gene

Productsfor ISM1 gene

View Random Gene

Aliases
for ISM1 gene

Summaries
for ISM1 gene

Genomic Views
for ISM1 gene

Proteins
for ISM1 gene

Protein Domains /
Families
for ISM1 gene

Function
for ISM1 gene

Pathways & Interactions
for ISM1 gene

Drugs & Compounds
for ISM1 gene

Transcripts
for ISM1 gene

Expression
for ISM1 gene

Orthologs
for ISM1 gene

Paralogs
for ISM1 gene

Genomic Variants
for ISM1 gene

Disorders / Diseases
for ISM1 gene

Publications
for ISM1 gene

Intellectual Property
for ISM1 gene

Products
for ISM1 gene