PCSK7 Gene (Protein Coding)

Proprotein Convertase Subtilisin/Kexin Type 7

GC11M117199
GIFtS:
44
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein un... See more...

Aliases for PCSK7 Gene

Aliases for PCSK7 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 7 2 3 4 5
  • SPC7 2 3 4
  • LPC 2 3 4
  • PC7 2 3 4
  • PC8 2 3 4
  • Subtilisin/Kexin-Like Protease PC7 3 4
  • Lymphoma Proprotein Convertase 3 4
  • Prohormone Convertase 7 3 4
  • Proprotein Convertase 7 3 4
  • Proprotein Convertase 8 3 4
  • Proprotein Convertase Subtilisin/Kexin Type 7 Precursor Variant 2 3
  • Prohormone Convertase PC7 3
  • Proprotein Convertase PC7 3
  • EC 3.4.21.75 50
  • EC 3.4.21.93 50
  • EC 3.4.21.61 50
  • EC 3.4.21.- 4
  • EC 3.4.21 50
  • PCSK7 5
  • HPC8 4

External Ids for PCSK7 Gene

Previous GeneCards Identifiers for PCSK7 Gene

  • GC11M119428
  • GC11M118587
  • GC11M117109
  • GC11M116613
  • GC11M116581
  • GC11M113008
  • GC11M117075

Summaries for PCSK7 Gene

Entrez Gene Summary for PCSK7 Gene

  • This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]

GeneCards Summary for PCSK7 Gene

PCSK7 (Proprotein Convertase Subtilisin/Kexin Type 7) is a Protein Coding gene. Diseases associated with PCSK7 include Lymphoma and Apricot Allergy. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PCSK5.

UniProtKB/Swiss-Prot Summary for PCSK7 Gene

  • Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway.

Gene Wiki entry for PCSK7 Gene

Additional gene information for PCSK7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCSK7 Gene

Genomics for PCSK7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PCSK7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCSK7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCSK7

Top Transcription factor binding sites by QIAGEN in the PCSK7 gene promoter:
  • AML1a

Genomic Locations for PCSK7 Gene

Latest Assembly
chr11:117,201,156-117,232,525
(GRCh38/hg38)
Size:
31,370 bases
Orientation:
Minus strand

Previous Assembly
chr11:117,075,053-117,102,789
(GRCh37/hg19 by Entrez Gene)
Size:
27,737 bases
Orientation:
Minus strand

chr11:117,075,053-117,103,241
(GRCh37/hg19 by Ensembl)
Size:
28,189 bases
Orientation:
Minus strand

Genomic View for PCSK7 Gene

Genes around PCSK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PCSK7 Gene

Proteins for PCSK7 Gene

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  • Protein details for PCSK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16549-PCSK7_HUMAN
    Recommended name:
    Proprotein convertase subtilisin/kexin type 7
    Protein Accession:
    Q16549
    Secondary Accessions:
    • B0YJ60
    • Q3C1X1
    • Q53GM4
    • Q96FK8
    • Q9UL57

    Protein attributes for PCSK7 Gene

    Size:
    785 amino acids
    Molecular mass:
    86247 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for PCSK7 Gene

Protein Expression for PCSK7 Gene

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

Selected DME Specific Peptides for PCSK7 Gene

Q16549:
  • HGTRCAGE
  • NNSFCAVG
  • GFGLLNA
  • GTSAAAP
  • LTWRDVQ
  • SWGPDDDGKTVDGP
  • DNCNYDGY

Post-translational modifications for PCSK7 Gene

Other Protein References for PCSK7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PCSK7 Gene

Gene Families for PCSK7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PCSK7 Gene

InterPro:
Blocks:
  • Subtilisin serine protease family (S8) signature
  • Proprotein convertase, P domain

Suggested Antigen Peptide Sequences for PCSK7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ39888 fis, clone SPLEN2016533, highly similar to Proprotein convertase subtilisin/kexin type 7 (EC 3.4.21.-) (B3KUH2_HUMAN)
  • Subtilisin/kexin-like protease PC7 (PCSK7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16549

UniProtKB/Swiss-Prot:

PCSK7_HUMAN :
  • Belongs to the peptidase S8 family.
Family:
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with PCSK7: view

Function for PCSK7 Gene

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  6. Cell Lines for research

Molecular function for PCSK7 Gene

UniProtKB/Swiss-Prot Function:
Serine endoprotease that processes various proproteins by cleavage at paired basic amino acids, recognizing the RXXX[KR]R consensus motif. Likely functions in the constitutive secretory pathway.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by zinc and copper.
GENATLAS Biochemistry:
proprotein convertase subtilisin/Rev in type 7,widely expressed

Enzyme Numbers (IUBMB) for PCSK7 Gene

Phenotypes From GWAS Catalog for PCSK7 Gene

Gene Ontology (GO) - Molecular Function for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 32814053
GO:0008233 peptidase activity IEA,IDA 15606899
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PCSK7: view
genes like me logo Genes that share phenotypes with PCSK7: view

Animal Models for PCSK7 Gene

MGI Knock Outs for PCSK7:

Animal Models for research

  • Taconic Biosciences Mouse Models for PCSK7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCSK7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCSK7 Gene

Localization for PCSK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK7 Gene

Golgi apparatus, trans-Golgi network membrane. Single-pass type I membrane protein. Note=Seems to be localized intracellularly to the trans Golgi network. {ECO:0000250}.

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 PCSK7 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
nucleus 3
extracellular 2
endoplasmic reticulum 2
endosome 2
cytosol 2
cytoskeleton 1
mitochondrion 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IBA 21873635
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IDA 9341152
genes like me logo Genes that share ontologies with PCSK7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCSK7 Gene

Pathways & Interactions for PCSK7 Gene

PathCards logo

SuperPathways for PCSK7 Gene

No Data Available

SIGNOR curated interactions for PCSK7 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for PCSK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0016485 protein processing IDA 15606899
GO:0016486 peptide hormone processing NAS 9341152
genes like me logo Genes that share ontologies with PCSK7: view

No data available for Pathways by source for PCSK7 Gene

Drugs & Compounds for PCSK7 Gene

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(4) Drugs for PCSK7 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 276
Calcium Nutra 6959
genes like me logo Genes that share compounds with PCSK7: view

Transcripts for PCSK7 Gene

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mRNA/cDNA for PCSK7 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 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 PCSK7

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK7 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ·
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: - - -
SP9:
SP10: - - - - -
SP11: - - - - - - - - - -
SP12:
SP13: - - - - - -
SP14:
SP15: - - - - -
SP16: -
SP17:
SP18:
SP19:

ExUns: 13c · 13d ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c · 21d ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - -
SP15:
SP16:
SP17:
SP18: - - -
SP19:

Relevant External Links for PCSK7 Gene

GeneLoc Exon Structure for
PCSK7

Expression for PCSK7 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCSK7 Gene

mRNA expression in normal human tissues for PCSK7 Gene
mRNA expression by GTEx for PCSK7 GenemRNA expression by BioGPS for PCSK7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCSK7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCSK7

SOURCE GeneReport for Unigene cluster for PCSK7 Gene:

Hs.648612

mRNA Expression by UniProt/SwissProt for PCSK7 Gene:

Q16549-PCSK7_HUMAN
Tissue specificity: Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocyte.

Evidence on tissue expression from TISSUES for PCSK7 Gene

  • Nervous system(4.6)
  • Kidney(4.5)
  • Eye(4.2)
  • Lung(3.2)
  • Heart(2.7)
  • Intestine(2.7)
  • Skin(2.6)
  • Spleen(2.6)
  • Lymph node(2.6)
  • Bone marrow(2.5)
  • Stomach(2.3)
  • Muscle(2.1)
  • Gall bladder(2.1)
  • Liver(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PCSK7: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK7 Gene

Orthologs for PCSK7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCSK7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PCSK7 29 30
  • 99.24 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PCSK7 29 30
  • 88.87 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PCSK7 29 30
  • 87.37 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PCSK7 30
  • 87 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pcsk7 29 16 30
  • 86.39 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pcsk7 29
  • 85.96 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PCSK7 30
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PC7 30
  • 78 (a)
 OneToOne
PCSK7 29
  • 76.96 (n)
Lizard
(Anolis carolinensis)
 Reptilia PCSK7 30
  • 79 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pcsk7 29
  • 67.65 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pcsk7 29 30
  • 68.21 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea aex-5 31
  • 33 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes KEX2 30 32
  • 28 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToOne
Species where no ortholog for PCSK7 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 PCSK7 Gene

ENSEMBL:
Gene Tree for PCSK7 (if available)
TreeFam:
Gene Tree for PCSK7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCSK7: view image
Alliance of Genome Resources:
Additional Orthologs for PCSK7

Paralogs for PCSK7 Gene

Paralogs for PCSK7 Gene

(6) SIMAP similar genes for PCSK7 Gene using alignment to 5 proteins:

  • PCSK7_HUMAN
  • B3KUH2_HUMAN
  • E9PIW7_HUMAN
  • E9PLM0_HUMAN
  • E9PMC0_HUMAN

Pseudogenes.org Pseudogenes for PCSK7 Gene

genes like me logo Genes that share paralogs with PCSK7: view

Variants for PCSK7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCSK7 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs11547377 Benign: not provided 117,204,332(-) C/T
NM_003186.5(TAGLN):c.579C>T (p.Tyr193=) 		SYNONYMOUS
rs12284316 Benign: not provided 117,204,298(-) A/G
NM_003186.5(TAGLN):c.545A>G (p.Asn182Ser) 		MISSENSE
rs1591808129 Likely Benign: not provided 117,229,398(-) C/T
NM_004716.4(PCSK7):c.447G>A (p.Lys149=) 		SYNONYMOUS
rs201598301 Benign: not provided 117,206,025(-) G/A
NM_004716.4(PCSK7):c.2330C>T (p.Pro777Leu) 		MISSENSE_VARIANT,THREE_PRIME_UTR
rs202087066 Benign: not provided 117,207,963(-) G/A
NM_004716.4(PCSK7):c.1786+7C>T 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PCSK7 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 PCSK7 Gene

Variant ID Type Subtype PubMed ID
dgv2186n54 CNV loss 21841781
dgv416e212 CNV loss 25503493
dgv708e59 CNV duplication 20981092
dgv730n106 OTHER inversion 24896259
esv3419020 CNV duplication 20981092
esv3579921 CNV loss 25503493
nsv1078301 OTHER inversion 25765185
nsv1139559 CNV duplication 24896259
nsv524270 CNV loss 19592680
nsv7223 OTHER inversion 18451855
nsv983065 CNV duplication 23825009

Variation tolerance for PCSK7 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCSK7 Gene

Human Gene Mutation Database (HGMD)
PCSK7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK7
Leiden Open Variation Database (LOVD)
PCSK7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK7 Gene

Disorders for PCSK7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PCSK7 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lymphoma
  • lymphoid cancer
apricot allergy
  • prunus armeniaca fruit allergy
heel spur
  • calcaneal spur
form agnosia
nerve compression syndrome
  • compression neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search PCSK7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PCSK7

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 PCSK7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK7 Gene

Publications for PCSK7 Gene

  1. PC8 [corrected], a new member of the convertase family. (PMID: 8615762) Bruzzaniti A … Gillespie MT (The Biochemical journal 1996) 2 3 4 22
  2. Molecular analysis of an unstable genomic region at chromosome band 11q23 reveals a disruption of the gene encoding the alpha2 subunit of platelet-activating factor acetylhydrolase (Pafah1a2) in human lymphoma. (PMID: 10362256) Lecointe N … Young BD (Oncogene 1999) 3 4 22
  3. Biosynthesis, distinct post-translational modifications, and functional characterization of lymphoma proprotein convertase. (PMID: 9341152) van de Loo JW … Van de Ven WJ (The Journal of biological chemistry 1997) 3 4 22
  4. A new member of the proprotein convertase gene family (LPC) is located at a chromosome translocation breakpoint in lymphomas. (PMID: 8564950) Meerabux J … Young BD (Cancer research 1996) 3 4 22
  5. Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. (PMID: 21943158) Middelberg RP … Whitfield JB (BMC medical genetics 2011) 3 40

ExternalLinks

View latest publications for PCSK7 gene in Mastermind

Products for PCSK7 Gene

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Sources for PCSK7 Gene