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Aliases for TNNT3 Gene

Aliases for TNNT3 Gene

  • Troponin T3, Fast Skeletal Type 2 3 5
  • Troponin T Type 3 (Skeletal, Fast) 2 3
  • Troponin T, Fast Skeletal Muscle 3 4
  • Beta-TnTF 3 4
  • Fast Skeletal Muscle Troponin T 4
  • Troponin-T3, Skeletal, Fast 2
  • Troponin T3, Skeletal, Fast 2
  • DA2B2 3
  • TNTF 3
  • TnTf 4
  • FTnT 4

External Ids for TNNT3 Gene

Previous GeneCards Identifiers for TNNT3 Gene

  • GC11M000837
  • GC11P002023
  • GC11P001900
  • GC11P001908
  • GC11P001898
  • GC11P001710

Summaries for TNNT3 Gene

Entrez Gene Summary for TNNT3 Gene

  • The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]

GeneCards Summary for TNNT3 Gene

TNNT3 (Troponin T3, Fast Skeletal Type) is a Protein Coding gene. Diseases associated with TNNT3 include Arthrogryposis, Distal, Type 2B2 and Arthrogryposis, Distal, Type 2B1. Among its related pathways are Cardiac conduction and Striated Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is TNNT1.

UniProtKB/Swiss-Prot for TNNT3 Gene

  • Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Gene Wiki entry for TNNT3 Gene

Additional gene information for TNNT3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNT3 Gene

Genomics for TNNT3 Gene

GeneHancer (GH) Regulatory Elements for TNNT3 Gene

Promoters and enhancers for TNNT3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J001916 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 613.2 +5.1 5061 16.5 RAD21 EGR1 IKZF1 ZBTB33 CTCF ZNF341 TRIM22 MNT SCRT2 MGA TNNT3 MRPL23-AS1 LINC01150 MRPL23
GH11J001888 Promoter 0.5 EPDnew 600.3 -32.3 -32295 0.1 TNNT3 PRR33 MIR7847 LSP1 GC11P001831
GH11J001089 Promoter 0.5 EPDnew 600 -829.9 -829948 0.1 TNNT3 PIR59417 GC11M001099 MUC2
GH11J001868 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 12.6 -43.5 -43549 14.8 CC2D1A CTCF ZNF148 RAD21 GLIS2 ZBTB33 ARID2 PRDM10 ZIC2 ZNF143 TNNT3 TNNI2 SYT8 LSP1 CTSD MIR7847 GC11P001865 GC11P001831
GH11J002197 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.6 +277.9 277939 0.6 CC2D1A CTCF MLLT1 RAD21 ARID2 REST ZNF311 NKRF YBX3 ZIK1 TNNT3 H19 C11orf21 GC11M002206 MIR4686
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNNT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNNT3 gene promoter:
  • AREB6
  • ARP-1
  • ATF6
  • c-Myc
  • CREB
  • CUTL1
  • deltaCREB
  • HEN1
  • Max1
  • SRF

Genomic Locations for TNNT3 Gene

Genomic Locations for TNNT3 Gene
19,145 bases
Plus strand
19,145 bases
Plus strand

Genomic View for TNNT3 Gene

Genes around TNNT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNT3 Gene

Proteins for TNNT3 Gene

  • Protein details for TNNT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Troponin T, fast skeletal muscle
    Protein Accession:
    Secondary Accessions:
    • A8MQ76
    • A8MSW1
    • B3KPX3
    • B7WP64
    • B7ZL26
    • B7ZVV9
    • Q12975
    • Q12976
    • Q12977
    • Q12978
    • Q17RG9
    • Q6FH29
    • Q6N056
    • Q86TH6

    Protein attributes for TNNT3 Gene

    269 amino acids
    Molecular mass:
    31825 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH50446.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TNNT3 Gene

neXtProt entry for TNNT3 Gene

Post-translational modifications for TNNT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for TNNT3
  • Boster Bio Antibodies for TNNT3

No data available for DME Specific Peptides for TNNT3 Gene

Domains & Families for TNNT3 Gene

Gene Families for TNNT3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TNNT3 Gene


Suggested Antigen Peptide Sequences for TNNT3 Gene

GenScript: Design optimal peptide antigens:
  • TNNT3 protein (Q6P670_HUMAN)
  • Fast skeletal muscle troponin T (TNNT3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the troponin T family.
  • Belongs to the troponin T family.
genes like me logo Genes that share domains with TNNT3: view

Function for TNNT3 Gene

Molecular function for TNNT3 Gene

UniProtKB/Swiss-Prot Function:
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
GENATLAS Biochemistry:
troponin T3,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,fast skeletal muscle,organized in pair with TNNI2,involved in the attachment of the complex to tropomyosin and troponin I,not imprinted in humans

Phenotypes From GWAS Catalog for TNNT3 Gene

Gene Ontology (GO) - Molecular Function for TNNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 contributes_to actin binding IDA 17194691
GO:0005509 calcium ion binding IBA 21873635
GO:0005515 protein binding IBA --
GO:0005523 tropomyosin binding IMP 8987992
GO:0030172 troponin C binding IPI,IBA 8987992
genes like me logo Genes that share ontologies with TNNT3: view
genes like me logo Genes that share phenotypes with TNNT3: view

Human Phenotype Ontology for TNNT3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNT3 Gene

MGI Knock Outs for TNNT3:
  • Tnnt3 Tnnt3<tm2a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT3

Clone Products

  • Applied Biological Materials (abm): Clones for TNNT3 - Now 50% OFF >
  • * TNNT3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TNNT3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TNNT3 Gene

Localization for TNNT3 Gene

Subcellular locations from

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 TNNT3 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for TNNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IEA,IDA 8987992
genes like me logo Genes that share ontologies with TNNT3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for TNNT3 Gene

Pathways & Interactions for TNNT3 Gene

PathCards logo

SuperPathways for TNNT3 Gene

genes like me logo Genes that share pathways with TNNT3: view

Pathways by source for TNNT3 Gene

1 BioSystems pathway for TNNT3 Gene
2 Reactome pathways for TNNT3 Gene

Gene Ontology (GO) - Biological Process for TNNT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IDA 17194691
GO:0006936 muscle contraction IBA 21873635
GO:0006937 regulation of muscle contraction IEA --
GO:0006942 regulation of striated muscle contraction IDA,IEA 17194691
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with TNNT3: view

No data available for SIGNOR curated interactions for TNNT3 Gene

Drugs & Compounds for TNNT3 Gene

(1) Drugs for TNNT3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
genes like me logo Genes that share compounds with TNNT3: view

Transcripts for TNNT3 Gene

mRNA/cDNA for TNNT3 Gene

Unigene Clusters for TNNT3 Gene

Troponin T type 3 (skeletal, fast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNT3

Clone Products

  • Applied Biological Materials (abm): Clones for TNNT3 - Now 50% OFF >
  • * TNNT3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TNNT3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for TNNT3 Gene

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

Relevant External Links for TNNT3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TNNT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNNT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNT3 Gene

This gene is overexpressed in Muscle - Skeletal (x48.7).

Protein differential expression in normal tissues from HIPED for TNNT3 Gene

This gene is overexpressed in Tonsil (48.4), Esophagus (9.3), and Stomach (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNNT3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TNNT3 Gene:


SOURCE GeneReport for Unigene cluster for TNNT3 Gene:


mRNA Expression by UniProt/SwissProt for TNNT3 Gene:

Tissue specificity: In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.

Evidence on tissue expression from TISSUES for TNNT3 Gene

  • Muscle(5)
  • Liver(4.1)
  • Lung(4.1)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNT3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TNNT3: view

No data available for Protein tissue co-expression partners for TNNT3 Gene

Orthologs for TNNT3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNT3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TNNT3 35
  • 91 (a)
(Bos Taurus)
Mammalia TNNT3 35 34
  • 90.05 (n)
(Canis familiaris)
Mammalia TNNT3 35 34
  • 89.55 (n)
(Mus musculus)
Mammalia Tnnt3 17 35 34
  • 88.99 (n)
(Ornithorhynchus anatinus)
Mammalia TNNT3 35
  • 76 (a)
(Gallus gallus)
Aves TNNT3 35 34
  • 75.95 (n)
(Anolis carolinensis)
Reptilia TNNT3 35
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tnnt3 34
  • 76.21 (n)
MGC75764 34
African clawed frog
(Xenopus laevis)
Amphibia tnnt3a-prov 34
(Danio rerio)
Actinopterygii tnnt3b 35 34
  • 72.22 (n)
tnnt3a 35
  • 65 (a)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10451 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.963 35
  • 45 (a)
CSA.10162 35
  • 42 (a)
Species where no ortholog for TNNT3 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TNNT3 Gene

Gene Tree for TNNT3 (if available)
Gene Tree for TNNT3 (if available)
Evolutionary constrained regions (ECRs) for TNNT3: view image

Paralogs for TNNT3 Gene

Paralogs for TNNT3 Gene

(3) SIMAP similar genes for TNNT3 Gene using alignment to 12 proteins:

  • A6NE78_HUMAN
  • A6NN42_HUMAN
  • F8WA37_HUMAN
  • Q6P670_HUMAN
genes like me logo Genes that share paralogs with TNNT3: view

Variants for TNNT3 Gene

Sequence variations from dbSNP and Humsavar for TNNT3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs114407235 likely-benign, Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita distal 1,919,698(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs121434638 pathogenic, Distal arthrogryposis type 2B, not provided, Arthyrgryposis, distal, type 2B, Arthrogryposis, distal, 2B (DA2B) [MIM:601680] 1,933,737(+) G/A coding_sequence_variant, missense_variant
rs140388684 uncertain-significance, Arthrogryposis multiplex congenita distal, Arthrogryposis multiplex congenita 1,938,474(+) C/T coding_sequence_variant, synonymous_variant
rs143255528 likely-benign, not specified, Arthrogryposis multiplex congenita distal, Arthrogryposis multiplex congenita 1,938,423(+) G/A/C intron_variant
rs144957238 not-provided, likely-benign, not provided, not specified 1,933,970(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TNNT3 Gene

Variant ID Type Subtype PubMed ID
dgv132e201 CNV deletion 23290073
dgv34n16 OTHER inversion 17901297
esv1001997 OTHER inversion 20482838
esv1007968 CNV insertion 20482838
esv1011096 OTHER inversion 20482838
esv2615443 OTHER inversion 19546169
esv2743979 CNV deletion 23290073
esv29980 CNV loss 17803354
esv3332823 OTHER inversion 20981092
esv3349780 OTHER inversion 20981092
nsv1039289 CNV gain 25217958
nsv1047474 CNV gain 25217958
nsv436657 OTHER inversion 17901297
nsv467645 CNV gain 19166990
nsv469926 CNV loss 18288195
nsv475208 CNV novel sequence insertion 20440878
nsv513689 OTHER inversion 21212237
nsv516622 CNV loss 19592680
nsv522320 CNV loss 19592680
nsv553047 CNV gain 21841781
nsv553061 CNV loss 21841781
nsv553062 CNV loss 21841781
nsv553063 CNV loss 21841781
nsv61 CNV deletion 15895083
nsv62 OTHER inversion 15895083
nsv63 CNV insertion 15895083
nsv7213 OTHER inversion 18451855
nsv7643 CNV deletion 18451855
nsv7644 CNV insertion 18451855
nsv951283 CNV deletion 24416366

Variation tolerance for TNNT3 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNNT3 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNT3 Gene

Disorders for TNNT3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TNNT3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 2b2
  • da2b2
arthrogryposis, distal, type 2b1
  • shs
digitotalar dysmorphism
  • da1a
distal arthrogryposis
  • freeman-sheldon syndrome
  • congenital clubfoot
- elite association - COSMIC cancer census association via MalaCards
Search TNNT3 in MalaCards View complete list of genes associated with diseases


  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269 PubMed:12865991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TNNT3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNNT3: view

No data available for Genatlas for TNNT3 Gene

Publications for TNNT3 Gene

  1. Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family. (PMID: 8172653) Wu QL … Sarkar S (DNA and cell biology 1994) 2 3 4 23 58
  2. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PMID: 19142688) Gurnett CA … Dobbs MB (Clinical orthopaedics and related research 2009) 3 23 45 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 58
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 45 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TNNT3 Gene

Sources for TNNT3 Gene

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