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Aliases for CHRNG Gene

Aliases for CHRNG Gene

  • Cholinergic Receptor Nicotinic Gamma Subunit 2 3 5
  • Acetylcholine Receptor, Nicotinic, Gamma (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic, Gamma (Muscle) 2 3
  • Cholinergic Receptor, Nicotinic Gamma 2 3
  • ACHRG 3 4
  • Cholinergic Receptor, Nicotinic, Gamma Polypeptide 3
  • Acetylcholine Receptor, Muscle, Gamma Subunit 3
  • Cholinergic Receptor, Nicotinic, Gamma 2
  • Acetylcholine Receptor Subunit Gamma 3

External Ids for CHRNG Gene

Previous HGNC Symbols for CHRNG Gene

  • ACHRG

Previous GeneCards Identifiers for CHRNG Gene

  • GC02P231461
  • GC02P232133
  • GC02P233368
  • GC02P233606
  • GC02P233229
  • GC02P233112
  • GC02P233404
  • GC02P225255

Summaries for CHRNG Gene

Entrez Gene Summary for CHRNG Gene

  • The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]

GeneCards Summary for CHRNG Gene

CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit) is a Protein Coding gene. Diseases associated with CHRNG include Multiple Pterygium Syndrome, Escobar Variant and Multiple Pterygium Syndrome, Lethal Type. Among its related pathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. Gene Ontology (GO) annotations related to this gene include extracellular ligand-gated ion channel activity and channel activity. An important paralog of this gene is CHRNE.

UniProtKB/Swiss-Prot for CHRNG Gene

  • After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Gene Wiki entry for CHRNG Gene

Additional gene information for CHRNG Gene

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

Genomics for CHRNG Gene

GeneHancer (GH) Regulatory Elements for CHRNG Gene

Promoters and enhancers for CHRNG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J232538 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 672.5 +0.0 5 2.3 ZFHX2 POLR2A GLIS1 ZNF398 ZIC2 EGR2 CHRNG EIF4E2
GH02J232521 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 21.3 -14.2 -14198 8.5 RB1 DEAF1 ZNF2 ZNF48 RAD21 ZNF335 SCRT2 ZNF143 SP5 ZBTB11 CHRND CHRNG PRSS56 TIGD1 EIF4E2 SCARNA5
GH02J232549 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.1 +11.0 11024 2.5 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 TIGD1 MIR5001 PIR32753 EIF4E2 CHRNG PRSS56 PIR51534
GH02J232537 Enhancer 0.4 ENCODE 26.1 -2.2 -2201 0.7 CTCF ZNF143 RAD21 CHRNG CHRND
GH02J232588 Enhancer 0.9 Ensembl ENCODE 7.6 +49.5 49512 1 PKNOX1 MAX RAD21 YY1 ZNF316 NFE2 MAFK NFE2L2 RXRA MAFG EIF4E2 CHRNG PIR51534 EFHD1 LOC105373929
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHRNG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRNG gene promoter:
  • SEF-1 (1)
  • GR-alpha
  • GR
  • IRF-2
  • COMP1
  • AP-4
  • GCNF
  • GCNF-1
  • GCNF-2
  • NF-1

Genomic Locations for CHRNG Gene

Genomic Locations for CHRNG Gene
chr2:232,539,727-232,546,403
(GRCh38/hg38)
Size:
6,677 bases
Orientation:
Plus strand
chr2:233,404,437-233,411,113
(GRCh37/hg19)
Size:
6,677 bases
Orientation:
Plus strand

Genomic View for CHRNG Gene

Genes around CHRNG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CHRNG Gene

Proteins for CHRNG Gene

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

    Protein Symbol:
    P07510-ACHG_HUMAN
    Recommended name:
    Acetylcholine receptor subunit gamma
    Protein Accession:
    P07510
    Secondary Accessions:
    • B3KWM8
    • Q14DU4
    • Q53RG2

    Protein attributes for CHRNG Gene

    Size:
    517 amino acids
    Molecular mass:
    57883 Da
    Quaternary structure:
    • Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.
    SequenceCaution:
    • Sequence=AAY24103.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA25861.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CHRNG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHRNG Gene

Post-translational modifications for CHRNG Gene

  • Glycosylation at Asn163 and Asn52
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRNG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHRNG Gene

Domains & Families for CHRNG Gene

Gene Families for CHRNG Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for CHRNG Gene

Graphical View of Domain Structure for InterPro Entry

P07510

UniProtKB/Swiss-Prot:

ACHG_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily.
genes like me logo Genes that share domains with CHRNG: view

Function for CHRNG Gene

Molecular function for CHRNG Gene

UniProtKB/Swiss-Prot Function:
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
GENATLAS Biochemistry:
cholinergic receptor,nicotinic,gamma polypeptide

Phenotypes From GWAS Catalog for CHRNG Gene

Gene Ontology (GO) - Molecular Function for CHRNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005230 CONTRIBUTES_TO extracellular ligand-gated ion channel activity IBA,IEA --
GO:0005515 protein binding IPI 25416956
GO:0015267 channel activity TAS 3967651
GO:0015276 ligand-gated ion channel activity TAS --
genes like me logo Genes that share ontologies with CHRNG: view
genes like me logo Genes that share phenotypes with CHRNG: view

Human Phenotype Ontology for CHRNG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRNG Gene

MGI Knock Outs for CHRNG:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNG

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CHRNG Gene

Localization for CHRNG Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRNG Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

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 CHRNG gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CHRNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 3967651
GO:0005892 acetylcholine-gated channel complex IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHRNG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRNG Gene

Pathways & Interactions for CHRNG Gene

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

Gene Ontology (GO) - Biological Process for CHRNG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006936 muscle contraction TAS 8040310
GO:0007165 signal transduction TAS 3967651
GO:0007268 chemical synaptic transmission IBA --
GO:0007271 synaptic transmission, cholinergic IBA --
genes like me logo Genes that share ontologies with CHRNG: view

No data available for SIGNOR curated interactions for CHRNG Gene

Drugs & Compounds for CHRNG Gene

(1) Drugs for CHRNG Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galantamine Approved Pharma Target, allosteric modulator Acetylcholinesterase inhibitor 106
genes like me logo Genes that share compounds with CHRNG: view

Transcripts for CHRNG Gene

mRNA/cDNA for CHRNG Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHRNG Gene

Cholinergic receptor, nicotinic, gamma (muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRNG

Clone Products

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

No ASD Table

Relevant External Links for CHRNG Gene

GeneLoc Exon Structure for
CHRNG
ECgene alternative splicing isoforms for
CHRNG

Expression for CHRNG Gene

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

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

This gene is overexpressed in Muscle - Skeletal (x50.2).

Protein differential expression in normal tissues from HIPED for CHRNG Gene

This gene is overexpressed in Placenta (67.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRNG Gene



Protein tissue co-expression partners for CHRNG Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRNG Gene:

CHRNG

SOURCE GeneReport for Unigene cluster for CHRNG Gene:

Hs.248101

Evidence on tissue expression from TISSUES for CHRNG Gene

  • Muscle(4.4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CHRNG: view

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

Orthologs for CHRNG Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRNG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRNG 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRNG 34 33
  • 89.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRNG 34 33
  • 88.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Chrng 16 34 33
  • 87.49 (n)
rat
(Rattus norvegicus)
Mammalia Chrng 33
  • 86.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHRNG 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRNG 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRNG 34 33
  • 71.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRNG 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrng 33
  • 63.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC386669 33
zebrafish
(Danio rerio)
Actinopterygii LOC100536659 33
  • 62.12 (n)
chrng 34
  • 53 (a)
OneToOne
wufc54e06 33
fruit fly
(Drosophila melanogaster)
Insecta nAcRbeta-64B 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lev-1 34
  • 30 (a)
ManyToMany
acr-3 34
  • 30 (a)
ManyToMany
unc-29 34
  • 29 (a)
ManyToMany
acr-2 34
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for CHRNG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRNG Gene

ENSEMBL:
Gene Tree for CHRNG (if available)
TreeFam:
Gene Tree for CHRNG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRNG: view image

Paralogs for CHRNG Gene

(14) SIMAP similar genes for CHRNG Gene using alignment to 3 proteins:

  • ACHG_HUMAN
  • H7BYH0_HUMAN
  • Q14DU4_HUMAN
genes like me logo Genes that share paralogs with CHRNG: view

Variants for CHRNG Gene

Sequence variations from dbSNP and Humsavar for CHRNG Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs11690038 likely-benign, Multiple pterygium syndrome Escobar type 232,545,793(+) T/C 3_prime_UTR_variant
rs121912670 pathogenic, Multiple pterygium syndrome Escobar type, Lethal multiple pterygium syndrome, Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000], Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] 232,542,992(+) C/T coding_sequence_variant, missense_variant
rs121912671 pathogenic, Multiple pterygium syndrome Escobar type 232,545,570(+) C/T coding_sequence_variant, stop_gained
rs121912672 pathogenic, Multiple pterygium syndrome Escobar type 232,540,072(+) C/T coding_sequence_variant, stop_gained
rs13018423 benign, likely-benign, not specified, Multiple pterygium syndrome Escobar type 232,543,573(+) C/G/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv953202 CNV deletion 24416366
nsv821918 CNV gain 20364138
nsv3212 CNV deletion 18451855

Variation tolerance for CHRNG Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRNG Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHRNG Gene

MalaCards: The human disease database

(13) MalaCards diseases for CHRNG Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CHRNG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACHG_HUMAN
  • Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]: Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. {ECO:0000269 PubMed:16826520, ECO:0000269 PubMed:16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000]: Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. {ECO:0000269 PubMed:16826520, ECO:0000269 PubMed:16826531}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRNG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHRNG: view

No data available for Genatlas for CHRNG Gene

Publications for CHRNG Gene

  1. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. (PMID: 16826520) Hoffmann K … Mundlos S (American journal of human genetics 2006) 3 4 22 58
  2. Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. (PMID: 20584212) Saccone NL … Bierut LJ (Genes, brain, and behavior 2010) 3 44 58
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 44 58
  5. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PMID: 19259974) Saccone NL … Bierut LJ (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 44 58

Products for CHRNG Gene

Sources for CHRNG Gene

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