PTH Gene (Protein Coding)

Parathyroid Hormone

GC11M013492
GIFtS:
47
This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and ... See more...

Aliases for PTH Gene

Aliases for PTH Gene

  • Parathyroid Hormone 2 3 4 5
  • Parathormone 2 3 4
  • Parathyrin 2 3 4
  • Preproparathyroid Hormone 2 3
  • Parathyroid Hormone 1 2 3
  • Prepro-PTH 2 3
  • PTH1 2 3
  • FIH1 3
  • PTH 5

External Ids for PTH Gene

Previous GeneCards Identifiers for PTH Gene

  • GC11M014784
  • GC11M014262
  • GC11M013552
  • GC11M013477
  • GC11M013470
  • GC11M013193

Summaries for PTH Gene

Entrez Gene Summary for PTH Gene

  • This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for PTH Gene

PTH (Parathyroid Hormone) is a Protein Coding gene. Diseases associated with PTH include Hypoparathyroidism, Familial Isolated, 1 and Primary Hyperparathyroidism. Among its related pathways are Presynaptic function of Kainate receptors and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include hormone activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot Summary for PTH Gene

  • PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.

Gene Wiki entry for PTH Gene

Additional gene information for PTH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTH Gene

Genomics for PTH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PTH 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
GH11J013495 Promoter 0.6 EPDnew 250.7 +0.2 166 0.1 ATF2 ZNF350 KLF1 PTH ENSG00000255401 HSALNG0082773-001 HSALNG0082773-002 BTBD10
GH11J013494 Enhancer 0.2 Ensembl 250.7 +1.9 1880 0.2 PTH ENSG00000255401 HSALNG0082773-001 HSALNG0082773-002 BTBD10
GH11J013448 Enhancer 0.7 Ensembl ENCODE 10.2 +47.6 47580 3.6 ATF3 EP400 ATF4 CEBPB MAFK TRIM24 MZF1 ATF2 ATF7 CBX5 BTBD10 PTH lnc-PTH-3 piR-43105-076 ARNTL
GH11J013471 Enhancer 0.3 Ensembl 10.7 +23.9 23880 1 ZSCAN5C piR-31534-091 PTH BTBD10 lnc-ARNTL-2
GH11J013450 Enhancer 0.3 Ensembl 10.2 +44.4 44378 2 ZNF26 PTH BTBD10 lnc-PTH-3 piR-43105-076 ARNTL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTH

Top Transcription factor binding sites by QIAGEN in the PTH gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • E47
  • Pax-6
  • Tal-1beta
  • TBP
  • TFIID

Genomic Locations for PTH Gene

Latest Assembly
chr11:13,492,054-13,496,181
(GRCh38/hg38)
Size:
4,128 bases
Orientation:
Minus strand

Previous Assembly
chr11:13,513,601-13,517,728
(GRCh37/hg19 by Entrez Gene)
Size:
4,128 bases
Orientation:
Minus strand

chr11:13,513,602-13,517,728
(GRCh37/hg19 by Ensembl)
Size:
4,127 bases
Orientation:
Minus strand

Genomic View for PTH Gene

Genes around PTH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTH Gene

Proteins for PTH Gene

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

    Protein Symbol:
    P01270-PTHY_HUMAN
    Recommended name:
    Parathyroid hormone
    Protein Accession:
    P01270
    Secondary Accessions:
    • Q4VB48
    • Q9UD38

    Protein attributes for PTH Gene

    Size:
    115 amino acids
    Molecular mass:
    12861 Da
    Quaternary structure:
    • Interacts with PTH1R (via N-terminal extracellular domain).

    Three dimensional structures from OCA and Proteopedia for PTH Gene

neXtProt entry for PTH Gene

Protein Expression for PTH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PTH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for PTH Gene

Domains & Families for PTH Gene

Gene Families for PTH Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for PTH Gene

InterPro:
Blocks:
  • Parathyroid hormone

Suggested Antigen Peptide Sequences for PTH Gene

GenScript: Design optimal peptide antigens:
  • Parathyrin (PTHY_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01270

UniProtKB/Swiss-Prot:

PTHY_HUMAN :
  • Belongs to the parathyroid hormone family.
Family:
  • Belongs to the parathyroid hormone family.
genes like me logo Genes that share domains with PTH: view

Function for PTH Gene

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  6. Cell Lines for research

Molecular function for PTH Gene

UniProtKB/Swiss-Prot Function:
PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells.
GENATLAS Biochemistry:
parathyroid hormone,9.5kDa,formed from a 12.5kDa precursor

Phenotypes From GWAS Catalog for PTH Gene

Gene Ontology (GO) - Molecular Function for PTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IMP 11604398
GO:0005515 protein binding IPI 19674967
GO:0031856 parathyroid hormone receptor binding IBA 21873635
GO:0031857 type 1 parathyroid hormone receptor binding IMP 11604398
GO:0047485 protein N-terminus binding IMP 11604398
genes like me logo Genes that share ontologies with PTH: view
genes like me logo Genes that share phenotypes with PTH: view

Human Phenotype Ontology for PTH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTH Gene

MGI Knock Outs for PTH:
  • Pth Pth<tm1a(EUCOMM)Wtsi>
  • Pth Pth<tm1Dgo>

Animal Models for research

miRNA for PTH Gene

miRTarBase miRNAs that target PTH

Inhibitory RNAs for research

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

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

Localization for PTH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTH Gene

Secreted.

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 PTH gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 3
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for PTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA 21873635
genes like me logo Genes that share ontologies with PTH: view

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

Pathways & Interactions for PTH Gene

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

Pathways by source for PTH Gene

2 GeneGo (Thomson Reuters) pathways for PTH Gene
  • Development_Hedgehog and PTH signaling pathways in bone and cartilage development
  • Transcription_Role of VDR in regulation of genes involved in osteoporosis

SIGNOR curated interactions for PTH Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PTH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10913913
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA,IMP 11604398
GO:0007202 activation of phospholipase C activity IMP 11604398
genes like me logo Genes that share ontologies with PTH: view

Drugs & Compounds for PTH Gene

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(74) Drugs for PTH Gene - From: DrugBank, ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin D3 Approved Nutra Fat-soluble secosteroids 1159,1159
Alendronate Approved Pharma Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 182
Calcium carbonate Approved, Investigational Pharma 303
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 180
Vitamin D Approved, Vet_approved Nutra 2313

(18) Additional Compounds for PTH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for PTH Gene

Compound Action Cas Number
Parathyroid hormone (1-34) (human) Increases blood calcium level 52232-67-4
Parathyroid Hormone (1-34), bovine Enhancer of blood calcium level 12583-68-5
genes like me logo Genes that share compounds with PTH: view

Transcripts for PTH Gene

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mRNA/cDNA for PTH Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for PTH Gene

GeneLoc Exon Structure for
PTH

Expression for PTH Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for PTH Gene
mRNA expression by BioGPS for PTH GenemRNA expression by GTEx for PTH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Stomach (x6.4) and Thyroid (x6.1).

Protein differential expression in normal tissues from HIPED for PTH Gene

This gene is overexpressed in Serum (69.0).

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



Protein tissue co-expression partners for PTH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTH

SOURCE GeneReport for Unigene cluster for PTH Gene:

Hs.37045

Evidence on tissue expression from TISSUES for PTH Gene

  • Thyroid gland(4.7)
  • Bone(3.5)
  • Blood(3.2)
  • Kidney(3.2)
  • Urine(3.1)
  • Muscle(2.7)
  • Nervous system(2.6)
  • Skin(2.5)
  • Heart(2.5)
  • Bone marrow(2.5)
  • Liver(2.5)
  • Intestine(2.4)
  • Adrenal gland(2.2)
  • Pancreas(2.1)
  • Lymph node(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PTH: view

Primer products for research

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

Orthologs for PTH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PTH 29 30
  • 100 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PTH 29 30
  • 90.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PTH 29 30
  • 88.7 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pth 29 16 30
  • 78.55 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pth 29
  • 78.26 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PTH 30
  • 45 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PTH 29 30
  • 67.3 (n)
 OneToOne
Species where no ortholog for PTH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PTH Gene

ENSEMBL:
Gene Tree for PTH (if available)
TreeFam:
Gene Tree for PTH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTH: view image
Alliance of Genome Resources:
Additional Orthologs for PTH

Paralogs for PTH Gene

No data available for Paralogs for PTH Gene

Variants for PTH Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTH Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
879031 Uncertain Significance: Familial isolated hypoparathyroidism 13,492,308(-) T/C
NM_000315.4(PTH):c.*97A>G 		THREE_PRIME_UTR
880245 Uncertain Significance: Familial isolated hypoparathyroidism 13,492,562(-) T/C
NM_000315.4(PTH):c.191A>G (p.Asn64Ser) 		MISSENSE
880246 Uncertain Significance: Familial isolated hypoparathyroidism 13,492,630(-) G/T
NM_000315.4(PTH):c.123C>A (p.Asn41Lys) 		MISSENSE
880247 Benign: Familial isolated hypoparathyroidism 13,492,787(-) C/T
NM_000315.4(PTH):c.69G>A (p.Ser23=) 		SYNONYMOUS
rs104894271 Pathogenic: Hypoparathyroidism, familial isolated 1. Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200] 13,492,804(-) A/Gp.Cys18Arg
NM_000315.4(PTH):c.52T>C (p.Cys18Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1053021 CNV gain 25217958

Variation tolerance for PTH Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 2.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTH Gene

Human Gene Mutation Database (HGMD)
PTH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTH
Leiden Open Variation Database (LOVD)
PTH

SNP Genotyping and Copy Number Assays for research

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

Disorders for PTH Gene

MalaCards: The human disease database

(162) MalaCards diseases for PTH Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypoparathyroidism, familial isolated, 1
  • fih1
primary hyperparathyroidism
  • familial primary hyperparathyroidism
familial isolated hypoparathyroidism
  • fih
hypoparathyroidism
  • hypoparathyroidism, idiopathic
renal osteodystrophy
  • renal rickets
- elite association - COSMIC cancer census association via MalaCards
Search PTH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTHY_HUMAN
  • Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200]: A form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. FIH1 inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:10523031, ECO:0000269 PubMed:18056632, ECO:0000269 PubMed:2212001}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for PTH Gene

hypoparathyroidism,familial,isolated,dominant and recessive types

Additional Disease Information for PTH

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PTH: view

Publications for PTH Gene

  1. Associations of vitamin D receptor, calcium-sensing receptor and parathyroid hormone gene polymorphisms with calcium homeostasis and peripheral bone density in adult Finns. (PMID: 19690432) Laaksonen MM … Lamberg-Allardt CJ (Journal of nutrigenetics and nutrigenomics 2009) 3 22 40
  2. Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. (PMID: 18056632) Datta R … Sly WS (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 72
  3. [Polymorphism of parathyroid hormone gene and its association with bone mineral density of Han nationality women in Beijing area]. (PMID: 12905817) Li M … Xing XP (Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2001) 3 22 40
  4. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. (PMID: 10523031) Sunthornthepvarakul T … Ngowngarmratana S (The Journal of clinical endocrinology and metabolism 1999) 3 4 72
  5. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. (PMID: 2212001) Arnold A … Kronenberg HM (The Journal of clinical investigation 1990) 3 4 72

ExternalLinks

View latest publications for PTH gene in Mastermind

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