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Aliases for NAGA Gene

Aliases for NAGA Gene

  • Alpha-N-Acetylgalactosaminidase 2 3 3 5
  • N-Acetylgalactosaminidase, Alpha- 2 3
  • Alpha-Galactosidase B 3 4
  • EC 3.2.1.49 4 61
  • Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B) 3
  • EC 3.2.1 61
  • D22S674 3
  • GALB 3

External Ids for NAGA Gene

Previous GeneCards Identifiers for NAGA Gene

  • GC22M039068
  • GC22M040697
  • GC22M040778
  • GC22M040784
  • GC22M042428
  • GC22M025420

Summaries for NAGA Gene

Entrez Gene Summary for NAGA Gene

  • NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

GeneCards Summary for NAGA Gene

NAGA (Alpha-N-Acetylgalactosaminidase) is a Protein Coding gene. Diseases associated with NAGA include Kanzaki Disease and Schindler Disease, Type I. Among its related pathways are Lysosome and Globo Sphingolipid Metabolism. GO annotations related to this gene include protein homodimerization activity and alpha-galactosidase activity. An important paralog of this gene is GLA.

UniProtKB/Swiss-Prot for NAGA Gene

  • Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

Gene Wiki entry for NAGA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGA Gene

Genomics for NAGA Gene

Regulatory Elements for NAGA Gene

Enhancers for NAGA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G042989 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.1 -923.4 -923387 9.1 PKNOX1 FOXA2 WRNIP1 SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143 RN7SKP80 RPL5P34 RRP7BP PACSIN2 ARFGAP3 NAGA FAM109B A4GALT NDUFA6 PIR35633
GH22G041409 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +657.9 657896 6.2 HDGF MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 MEI1 EP300 POLR3H PHF5A CYP2D8P NAGA ENSG00000232754 ENSG00000272834 NDUFA6 TEF
GH22G041444 1.8 FANTOM5 ENCODE dbSUPER 10.6 +624.2 624156 5.9 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 PHF5A EP300 MEI1 POLR3H ACO2 CYP2D8P NDUFA6-AS1 NAGA SMDT1 XRCC6
GH22G043012 1.7 FANTOM5 ENCODE dbSUPER 10.6 -943.7 -943720 3.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 PACSIN2 RPL5P34 ARFGAP3 NAGA MCAT PIR35633
GH22G041467 1.6 Ensembl ENCODE dbSUPER 10.6 +600.0 600042 7.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR3H MEI1 PHF5A TOB2 EP300 NAGA CSDC2 ENSG00000232754 FAM109B SMDT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NAGA on UCSC Golden Path with GeneCards custom track

Promoters for NAGA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146707 71 801 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SP3 ZHX2
ENSR00000301975 771 201 BCOR SMARCC1 NR4A1 ZMYM3 ZNF592 ZBTB48 GATA2 IKZF1 SPI1

Genomic Location for NAGA Gene

Chromosome:
22
Start:
42,058,334 bp from pter
End:
42,070,871 bp from pter
Size:
12,538 bases
Orientation:
Minus strand

Genomic View for NAGA Gene

Genes around NAGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGA Gene

Proteins for NAGA Gene

  • Protein details for NAGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17050-NAGAB_HUMAN
    Recommended name:
    Alpha-N-acetylgalactosaminidase
    Protein Accession:
    P17050

    Protein attributes for NAGA Gene

    Size:
    411 amino acids
    Molecular mass:
    46565 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases, but apparently it differs from alpha-galactosidase A in substrate specificity and is alpha-N-acetylgalactosaminidase.
    SequenceCaution:
    • Sequence=AAA59902.1; Type=Frameshift; Positions=320; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAGA Gene

neXtProt entry for NAGA Gene

Selected DME Specific Peptides for NAGA Gene

P17050:
  • MSTDLRTIS
  • ASALVFFS
  • DILQNPL
  • AQDGWRD
  • GLKLGIY
  • NFTVIINPSGVVMWYL
  • SCSWPAY
  • ALNATGRP
  • WNDPDML

Post-translational modifications for NAGA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAGA Gene

Antibody Products

  • R&D Systems Antibodies for NAGA (alpha-N-acetylgalactosaminidase/NAGA)
  • Santa Cruz Biotechnology (SCBT) Antibodies for NAGA

Protein Products

Domains & Families for NAGA Gene

Suggested Antigen Peptide Sequences for NAGA Gene

Graphical View of Domain Structure for InterPro Entry

P17050

UniProtKB/Swiss-Prot:

NAGAB_HUMAN :
  • Belongs to the glycosyl hydrolase 27 family.
Family:
  • Belongs to the glycosyl hydrolase 27 family.
genes like me logo Genes that share domains with NAGA: view

No data available for Gene Families for NAGA Gene

Function for NAGA Gene

Molecular function for NAGA Gene

GENATLAS Biochemistry:
acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing glycoconjugates
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of non-reducing alpha-(1->3)-N-acetylgalactosamine residues from human blood group A and AB mucin glycoproteins, Forssman hapten and blood group A lacto series glycolipids.
UniProtKB/Swiss-Prot Function:
Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

Enzyme Numbers (IUBMB) for NAGA Gene

Gene Ontology (GO) - Molecular Function for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004557 alpha-galactosidase activity IBA --
GO:0008456 alpha-N-acetylgalactosaminidase activity IDA,TAS 19683538
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with NAGA: view
genes like me logo Genes that share phenotypes with NAGA: view

Human Phenotype Ontology for NAGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAGA Gene

MGI Knock Outs for NAGA:
  • Naga tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for NAGA Gene

miRTarBase miRNAs that target NAGA

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for NAGA Gene

Localization for NAGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAGA gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NAGA: view

Pathways & Interactions for NAGA Gene

genes like me logo Genes that share pathways with NAGA: view

Pathways by source for NAGA Gene

Gene Ontology (GO) - Biological Process for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0016052 carbohydrate catabolic process IDA 19683538
GO:0016139 glycoside catabolic process IBA --
GO:0019377 glycolipid catabolic process IMP 9741689
genes like me logo Genes that share ontologies with NAGA: view

No data available for SIGNOR curated interactions for NAGA Gene

Drugs & Compounds for NAGA Gene

(4) Drugs for NAGA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Experimental Pharma Target 238
Water Approved Pharma 0

(9) Additional Compounds for NAGA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-b-D-galactosamine
  • 2-Deoxy-2-acetamido-b-D-galactopyranose
  • 2-Deoxy-2-acetamido-beta-D-galactopyranose
  • 2-Deoxy-2-acetamido-beta-delta-galactopyranose
  • b-D-2-Acetamido-2-deoxy-Galactopyranose
  • b-N-Acetyl-D-galactosamine
14131-60-3
Tetrahexosylceramide (d18:1/12:0)
  • CQH
  • Cytolipin K
  • GalNAc-beta1->3Gal-alpha1->3Gal-beta1->4Glc-beta1->1'Cer
  • Ganglioside Gb4
  • Ganglioside GL 4
11034-93-8
genes like me logo Genes that share compounds with NAGA: view

Transcripts for NAGA Gene

Unigene Clusters for NAGA Gene

N-acetylgalactosaminidase, alpha-:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAGA Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for NAGA Gene

GeneLoc Exon Structure for
NAGA
ECgene alternative splicing isoforms for
NAGA

Expression for NAGA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NAGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAGA Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for NAGA Gene

This gene is overexpressed in Cerebrospinal fluid (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NAGA Gene



Protein tissue co-expression partners for NAGA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAGA Gene:

NAGA

SOURCE GeneReport for Unigene cluster for NAGA Gene:

Hs.75372

Evidence on tissue expression from TISSUES for NAGA Gene

  • Liver(4.4)
  • Lung(4.3)
  • Nervous system(2.5)
  • Kidney(2.2)
  • Blood(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NAGA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NAGA: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for NAGA Gene

Orthologs for NAGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAGA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAGA 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia NAGA 34 35
  • 87.83 (n)
dog
(Canis familiaris)
Mammalia NAGA 34 35
  • 87.27 (n)
rat
(Rattus norvegicus)
Mammalia Naga 34
  • 83.5 (n)
mouse
(Mus musculus)
Mammalia Naga 34 16 35
  • 81.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NAGA 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NAGA 34 35
  • 73.96 (n)
lizard
(Anolis carolinensis)
Reptilia NAGA 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia naga 34
  • 56.93 (n)
zebrafish
(Danio rerio)
Actinopterygii naga 34 35
  • 67 (n)
Dr.11718 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009621 34
  • 59.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5731 36 34 35
  • 57.91 (n)
CG7997 36 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea gana-1 34 35
  • 48.65 (n)
R07B7.11 36
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G56310 34
  • 50.2 (n)
rice
(Oryza sativa)
Liliopsida Os07g0679300 34
  • 49.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for NAGA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAGA Gene

ENSEMBL:
Gene Tree for NAGA (if available)
TreeFam:
Gene Tree for NAGA (if available)

Paralogs for NAGA Gene

Paralogs for NAGA Gene

(1) SIMAP similar genes for NAGA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NAGA: view

Variants for NAGA Gene

Sequence variations from dbSNP and Humsavar for NAGA Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs121434529 Pathogenic, Schindler disease (SCHIND) [MIM:609241] 42,061,052(-) TCATC(A/G)AAGTG reference, missense
rs121434530 Pathogenic, Kanzaki disease (KANZD) [MIM:609242] 42,061,040(-) ACATG(C/T)GGCCT reference, missense
rs121434532 Pathogenic, Schindler disease (SCHIND) [MIM:609241] 42,067,136(-) CTTCT(C/G)CACCC upstream-variant-2KB, reference, missense
rs121434533 Pathogenic, Kanzaki disease (KANZD) [MIM:609242] 42,061,039(-) CATGC(A/G)GCCTC reference, missense
rs121434531 Pathogenic 42,066,730(-) CCTAT(C/G/T)AAGGC upstream-variant-2KB, reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for NAGA Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV insertion 20534489
nsv834210 CNV loss 17160897

Variation tolerance for NAGA Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAGA Gene

Human Gene Mutation Database (HGMD)
NAGA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAGA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGA Gene

Disorders for NAGA Gene

MalaCards: The human disease database

(17) MalaCards diseases for NAGA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kanzaki disease
  • alpha-n-acetylgalactosaminidase deficiency adult onset
schindler disease, type i
  • schindler disease, type iii
schindler disease
  • n-acetyl-alpha-d-galactosaminidase deficiency
neuroaxonal dystrophy
  • neuroaxonal dystrophies
angiokeratoma
  • angiokeratoma of skin
- elite association - COSMIC cancer census association via MalaCards
Search NAGA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NAGAB_HUMAN
  • Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. {ECO:0000269 PubMed:11251574, ECO:0000269 PubMed:8040340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. {ECO:0000269 PubMed:2243144, ECO:0000269 PubMed:8782044}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NAGA Gene

angiokeratoma corporis diffusum with glycopeptiduria,Schindler,Seitelberger disease,neuroaxonal dystrophy,infantile and adult types

Relevant External Links for NAGA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAGA
genes like me logo Genes that share disorders with NAGA: view

Publications for NAGA Gene

  1. The 1.9 A structure of human alpha-N-acetylgalactosaminidase: the molecular basis of Schindler and Kanzaki diseases. (PMID: 19683538) Clark N.E. … Garman S.C. (J. Mol. Biol. 2009) 3 4 22 64
  2. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation. (PMID: 11251574) Kodama K. … Kanzaki T. (Br. J. Dermatol. 2001) 3 4 22 64
  3. Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. (PMID: 9741689) Asfaw B. … Conzelmann E. (J. Lipid Res. 1998) 3 4 22 64
  4. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (PMID: 8782044) Keulemans J.L.M. … van Diggelen O.P. (J. Med. Genet. 1996) 3 4 22 64
  5. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (PMID: 8040340) Wang A.M. … Desnick R.J. (J. Clin. Invest. 1994) 3 4 22 64

Products for NAGA Gene

Sources for NAGA Gene

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