KLRC1 Gene (Protein Coding)

Killer Cell Lectin Like Receptor C1

GC12M013870
GIFtS:
40
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentiall... See more...

Aliases for KLRC1 Gene

Aliases for KLRC1 Gene

  • Killer Cell Lectin Like Receptor C1 2 3 5
  • Killer Cell Lectin-Like Receptor Subfamily C, Member 1 2 3
  • NKG2-A/NKG2-B Type II Integral Membrane Protein 3 4
  • CD159 Antigen-Like Family Member A 3 4
  • NKG2-1/B Activating NK Receptor 2 3
  • NKG2-A/B-Activating NK Receptor 3 4
  • NK Cell Receptor A 3 4
  • NKG2A 3 4
  • NKG2-A/B Type II Integral Membrane Protein 3
  • Natural Killer Group Protein 2 3
  • Natural Killer Cell Lectin 3
  • C-Lectin Type II Protein 3
  • CD159a Antigen 4
  • CD159A 3
  • NKG2-A 2
  • NKG2-B 2
  • CD159a 2
  • KLRC1 5
  • NKG2 3

External Ids for KLRC1 Gene

Previous HGNC Symbols for KLRC1 Gene

  • NKG2

Previous GeneCards Identifiers for KLRC1 Gene

  • GC12M010302
  • GC12M010712
  • GC12M010483
  • GC12M010489
  • GC12M010598
  • GC12M010325
  • GC12M010708
  • GC12M010720
  • GC12M012418
  • GC12M012637
  • GC12M012792
  • GC12M013377
  • GC12M010783
  • GC12M011020
  • GC12M011309
  • GC12M011542
  • GC12M011734
  • GC12M011921
  • GC12M012107
  • GC12M012283

Summaries for KLRC1 Gene

Entrez Gene Summary for KLRC1 Gene

  • Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]

GeneCards Summary for KLRC1 Gene

KLRC1 (Killer Cell Lectin Like Receptor C1) is a Protein Coding gene. Diseases associated with KLRC1 include Bare Lymphocyte Syndrome, Type I and Trichohepatoenteric Syndrome 1. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is KLRC2.

UniProtKB/Swiss-Prot Summary for KLRC1 Gene

  • Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.

Additional gene information for KLRC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLRC1 Gene

Genomics for KLRC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KLRC1 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
GH12J010453 Promoter 0.4 EPDnew 600.7 +1.3 1290 0.1 CEBPB KLRC1 KLRC2
GH12J010360 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +90.4 90445 7.3 CTCF PRDM10 ZNF629 LEF1 IKZF1 ZNF692 POLR2A JUND FOXA1 DDX20 KLRK1-AS1 piR-30791-020 KLRK1 DDX12P ENSG00000213443 KLRA1P EIF2S3B ENSG00000257027 ENSG00000256682 CLEC2D
GH12J010557 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 17 -103.8 -103837 2.9 RELA SMAD5 RCOR1 EED RUNX3 CBFB TCF12 JUNB POLR2A CTCF KLRK1 KLRC4 KLRC1 KLRD1 KLRC4-KLRK1 KLRA1P LINC02446 KLRC3 KLRC2 lnc-EIF2S3B-5
GH12J010562 Enhancer 0.8 Ensembl ENCODE dbSUPER 23.4 -106.9 -106916 2.8 CTCF REST RAD21 TRIM22 ZNF10 SMC3 ZNF654 KLRC1 KLRK1 STYK1 KLRA1P TMEM52B KLRK1-AS1 KLRC3 KLRC2 lnc-EIF2S3B-5 LINC02446
GH12J010384 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +67.2 67233 5.1 ZNF629 ZSCAN4 ZNF747 ZNF639 ZNF248 NFE2 ZEB1 TSHZ1 NR3C1 CEBPB KLRK1 TAS2R19 TAS2R31 TAS2R14 TAS2R10 KLRA1P TAS2R15P MAGOHB TAS2R20 KLRC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLRC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLRC1

Top Transcription factor binding sites by QIAGEN in the KLRC1 gene promoter:
  • AML1a
  • Bach2
  • FOXF2
  • FOXJ2
  • Pax-3

Genomic Locations for KLRC1 Gene

Genomic Locations for KLRC1 Gene
chr12:10,441,673-10,454,685
(GRCh38/hg38)
Size:
13,013 bases
Orientation:
Minus strand
chr12:10,594,863-10,607,284
(GRCh37/hg19)
Size:
12,422 bases
Orientation:
Minus strand

Genomic View for KLRC1 Gene

Genes around KLRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KLRC1 Gene

Proteins for KLRC1 Gene

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  • Protein details for KLRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26715-NKG2A_HUMAN
    Recommended name:
    NKG2-A/NKG2-B type II integral membrane protein
    Protein Accession:
    P26715

    Protein attributes for KLRC1 Gene

    Size:
    233 amino acids
    Molecular mass:
    26314 Da
    Quaternary structure:
    • Can form disulfide-bonded heterodimer with KLRD1 (PubMed:18083576, PubMed:18332182, PubMed:18448674). KLRD1-KLRC1 heterodimer interacts with peptide-bound HLA-E-B2M heterotrimeric complex (PubMed:18083576).

    Three dimensional structures from OCA and Proteopedia for KLRC1 Gene

    Alternative splice isoforms for KLRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLRC1 Gene

Protein Expression for KLRC1 Gene

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

Post-translational modifications for KLRC1 Gene

  • Glycosylation at Asn102, Asn103, Asn151, and Asn180
  • Modification sites at PhosphoSitePlus

Other Protein References for KLRC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLRC1 Gene

Domains & Families for KLRC1 Gene

Gene Families for KLRC1 Gene

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

Protein Domains for KLRC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KLRC1 Gene

GenScript: Design optimal peptide antigens:
  • NKG2-A/B-activating NK receptor (NKG2A_HUMAN)
  • NKG2-A (Q8NIA5_HUMAN)
genes like me logo Genes that share domains with KLRC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLRC1 Gene

Function for KLRC1 Gene

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Molecular function for KLRC1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
GENATLAS Biochemistry:
natural killer cell lectin-like receptor subfamily C,member 1 with two alternatively spliced isoforms A (NKG2A),B (NKG2B)

Phenotypes From GWAS Catalog for KLRC1 Gene

Gene Ontology (GO) - Molecular Function for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 2007850
GO:0005515 protein binding IPI 18083576
GO:0023024 MHC class I protein complex binding IPI 18448674
GO:0030246 carbohydrate binding IEA --
GO:1990405 NOT protein antigen binding IDA 18448674
genes like me logo Genes that share ontologies with KLRC1: view
genes like me logo Genes that share phenotypes with KLRC1: view

Animal Models for KLRC1 Gene

MGI Knock Outs for KLRC1:

Animal Model Products

CRISPR Products

miRNA for KLRC1 Gene

miRTarBase miRNAs that target KLRC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLRC1 Gene

Localization for KLRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRC1 Gene

Membrane. Single-pass type II 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 KLRC1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2007850
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 18448674
genes like me logo Genes that share ontologies with KLRC1: view

Pathways & Interactions for KLRC1 Gene

genes like me logo Genes that share pathways with KLRC1: view

Pathways by source for KLRC1 Gene

3 GeneGo (Thomson Reuters) pathways for KLRC1 Gene
  • Immune response CD16 signaling in NK cells
  • Immune response Role of DAP12 receptors in NK cells
  • Immune response_Role of integrins in NK cells cytotoxicity
1 R&D Systems pathway for KLRC1 Gene

SIGNOR curated interactions for KLRC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KLRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway TAS 2007850
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KLRC1: view

Drugs & Compounds for KLRC1 Gene

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(7) Drugs for KLRC1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 602
Certolizumab pegol Approved Pharma 144
Etanercept Approved, Investigational Pharma 454
Infliximab Approved Pharma 469
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1825

(1) Additional Compounds for KLRC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLRC1: view

Transcripts for KLRC1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for KLRC1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLRC1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for KLRC1 Gene

GeneLoc Exon Structure for
KLRC1

Expression for KLRC1 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLRC1 Gene

mRNA expression in normal human tissues for KLRC1 Gene
mRNA expression by BioGPS for KLRC1 GenemRNA expression by GTEx for KLRC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLRC1 Gene

This gene is overexpressed in Whole Blood (x10.7) and Spleen (x6.3).

Protein differential expression in normal tissues from HIPED for KLRC1 Gene

This gene is overexpressed in Breast (50.4) and Liver (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLRC1 Gene



Protein tissue co-expression partners for KLRC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLRC1

SOURCE GeneReport for Unigene cluster for KLRC1 Gene:

Hs.512576

mRNA Expression by UniProt/SwissProt for KLRC1 Gene:

P26715-NKG2A_HUMAN
Tissue specificity: Natural killer cells.

Evidence on tissue expression from TISSUES for KLRC1 Gene

  • Blood(4.6)
  • Kidney(4.3)
  • Spleen(2.8)
  • Lymph node(2.6)
  • Bone marrow(2.4)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with KLRC1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRC1 Gene

Orthologs for KLRC1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KLRC1 30 31
  • 98.86 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KLRC1 30
  • 70.83 (n)
NKG2C 31
  • 47 (a)
 ManyToMany
Mouse
(Mus musculus)
 Mammalia Klrc1 30 17 31
  • 65.95 (n)
 ManyToMany
Rat
(Rattus norvegicus)
 Mammalia LOC100910089 30
  • 64.33 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 27 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 27 (a)
 ManyToMany
Species where no ortholog for KLRC1 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 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 KLRC1 Gene

ENSEMBL:
Gene Tree for KLRC1 (if available)
TreeFam:
Gene Tree for KLRC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLRC1: view image

Paralogs for KLRC1 Gene

Paralogs for KLRC1 Gene

(18) SIMAP similar genes for KLRC1 Gene using alignment to 4 proteins:

  • NKG2A_HUMAN
  • F5GYZ0_HUMAN
  • H0YGB7_HUMAN
  • Q8NIA5_HUMAN
genes like me logo Genes that share paralogs with KLRC1: view

Variants for KLRC1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLRC1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2253849 - p.Asn29Ser

Additional dbSNP identifiers (rs#s) for KLRC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLRC1 Gene

Variant ID Type Subtype PubMed ID
dgv171e201 CNV deletion 23290073
dgv2358n54 CNV loss 21841781
dgv2359n54 CNV loss 21841781
dgv2360n54 CNV loss 21841781
dgv2361n54 CNV loss 21841781
dgv264e199 CNV deletion 23128226
dgv270n67 CNV loss 20364138
esv25005 CNV loss 19812545
esv32543 CNV loss 17666407
esv3628535 CNV loss 21293372
esv3892138 CNV loss 25118596
nsv1138097 CNV deletion 24896259
nsv1148413 CNV deletion 26484159
nsv521062 CNV gain 19592680
nsv557476 CNV loss 21841781
nsv606 CNV deletion 18451855
nsv832328 CNV gain 17160897
nsv8914 CNV loss 18304495
nsv975448 CNV duplication 23825009

Variation tolerance for KLRC1 Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLRC1 Gene

Human Gene Mutation Database (HGMD)
KLRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRC1 Gene

Disorders for KLRC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KLRC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type i
  • bls, type i
trichohepatoenteric syndrome 1
  • thes1
malaria
  • malaria, susceptibility to
celiac disease 1
  • celiac disease, susceptibility to, 1
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search KLRC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLRC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KLRC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLRC1 Gene

Publications for KLRC1 Gene

  1. Sequence analysis of a 62-kb region overlapping the human KLRC cluster of genes. (PMID: 9598306) Plougastel B … Trowsdale J (Genomics 1998) 2 3 4 23
  2. CD94-NKG2A recognition of human leukocyte antigen (HLA)-E bound to an HLA class I leader sequence. (PMID: 18332182) Petrie EJ … Rossjohn J (The Journal of experimental medicine 2008) 3 4 23
  3. Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion in the general population. (PMID: 12618865) Hikami K … Tokunaga K (Genes and immunity 2003) 3 23 41
  4. Genomic structure, chromosome location, and alternative splicing of the human NKG2A gene. (PMID: 8753859) Plougastel B … Trowsdale J (Immunogenetics 1996) 3 4 23
  5. DNA sequence analysis of NKG2, a family of related cDNA clones encoding type II integral membrane proteins on human natural killer cells. (PMID: 2007850) Houchins JP … Bach FH (The Journal of experimental medicine 1991) 3 4 23

ExternalLinks

View latest publications for KLRC1 gene in Mastermind

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