KRT75 Gene
protein-coding GIFtS: 45
GCID: GC12M052817
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|
keratin 75
| |
Aliases for KRT75 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Keratin 751 2 | | PFB2 5 | | K6HF1 2 3 5 | | Cytokeratin Type II2 | | Keratin-6 Hair Follicle2 3 | | Cytokeratin-753 | | Type II Keratin-K6hf2 3 | | Keratin, Type II Cytoskeletal 752 | | Type-II Keratin Kb182 3 | | Keratin-753 | | CK-752 3 | | Type II Keratin-182 | | K752 3 | | Cytokeratin-753 | | KB182 3 | | Keratin-753 | | HK6hf1 | | |
Export aliases for KRT75 gene to outside databasesPrevious GC identifers: GC12M051105 GC12M049861 |
Summaries for KRT75 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for KRT75: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type IIkeratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene isexpressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft.The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associatedwith the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). (provided by RefSeq,Oct 2008) UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678Function: Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in thecompanion layer of the hair follicle
|
Genomic Views for KRT75 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_029419.12
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KRT75 gene promoter: TBP AML1a AP-1 Bach2 C/EBPalpha GATA-2 CHOP-10 JunD FOXC1 SEF-1 (1) Other transcription factors
Search SABiosciences Chromatin IP Primers for KRT75
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT75 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13KRT75 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M052817: view genomic region
(about GC identifiers)
Start:
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52,817,854 bp from pter |
End:
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52,828,309 bp from pter |
Size:
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10,456 bases |
Orientation:
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minus strand |
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Proteins for KRT75 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678 (See
protein sequence)Recommended Name: Keratin, type II cytoskeletal 75 Size: 551 amino acids; 59560 Da
Subunit: Heterodimer of a type I and a type II keratin (By similarity). May associate with KRT17 (By similarity)
Miscellaneous: May be used as a marker of hair differentiation
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic)(40-55 and 56-70 kDa, respectively)
Sequence caution: Sequence=BAG61056.1; Type=Erroneous initiation;
Secondary accessions: B4DQU4 Q9NSA9Explore the universe of human proteins at neXtProt for KRT75: NX_O95678
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O95678 KRT75 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004684.2 ENSEMBL proteins: ENSP00000252245 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
-- | -- | | GO:0045095 | keratin filament |
IEA | -- |
KRT75 for ontologies About GeneDecksing
KRT75 Antibody Products: Assay Products for KRT75: |
Protein
Domains / Families for KRT75 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KRT75 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O95678ProtoNet protein and cluster: O95678 3 Blocks protein families: IPB001664 Intermediate filament protein IPB002957 Type I keratin signature IPB003054 Type II keratin signature
UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678Similarity: Belongs to the intermediate filament family |
Function for KRT75 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678Function: Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in thecompanion layer of the hair follicle
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT75 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT75 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRT75 (NM_004693) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRT75 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT75  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT75 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005198 | structural molecule activity |
IEA | -- |
KRT75 for ontologies About GeneDecksing
Animal Models: 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Krt75):
KRT75 for phenotypes About GeneDecksing
|
Pathways & Interactions for KRT75 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT75
5/65 Interacting proteins for KRT75 (O956783) via UniProtKB, MINT, STRING, and/or I2D (see all 65)About this table
|
Drugs & Compounds for KRT75 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for KRT75 Search CenterWatch for drugs/clinical trials and news about KRT75 / K2C75 
|
Transcripts for KRT75 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for KRT75 gene: NM_004693.2 Unigene Cluster for KRT75: Keratin 75 Hs.697046 [show with all ESTs]Unigene Representative Sequence: AK2989601 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000252245(uc001saj.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT75 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT75 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KRT75 (NM_004693) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KRT75 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT75  |
Additional cDNA sequence: AK225962.1 AK298960.1 Y17282.1 5 DOTS entries: DT.70104540 DT.92470158 DT.121119142 DT.121117540 DT.95147644 2 AceView cDNA sequences: NM_004693 Y17282 GeneLoc Exon Structure
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Expression for KRT75 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KRT75 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See KRT75 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KRT75
SOURCE GeneReport for Unigene cluster: Hs.697046 UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678Tissue specificity: Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companionlayer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath(ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of thefollicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at proteinlevel) SABiosciences Custom PCR Arrays for KRT75
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT75 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRT75 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT75 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT75 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT75 |
Orthologs for KRT75 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KRT75 gene from 4/14 species (see all 14) About this table
ENSEMBL Gene Tree for KRT75 (if available) TreeFam Gene Tree for KRT75 (if available)  |
Paralogs for KRT75 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for KRT75 gene
- KRT742 KRT772 KRT6B2 KRT832 KRT762 KRT862 KRT32 KRT842
- KRT82 KRT812 KRT712 KRT8P112 KRT782 KRT72 ENSG000001704422 KRT792
- KRT722 KRT732 KRT52 KRT6C2 KRT6A2 KRT852 KRT22 KRT12
- KRT822 KRT42
18/50 SIMAP similar genes for KRT75 using alignment to 1 protein entry: K2C75_HUMAN(see all similar genes):KRT5 KRT6A KRT6B KRT6C KRT79 KRT121P KRTHB6 KRT7 KRT1B KRT72 KRT78 KRT86 KRT8 KRT74 KRT4 KRT2 KRT71 KRT73
KRT75 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for KRT75 PGOHUM00000240526
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Genomic Variants for KRT75 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
| UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678Polymorphism: The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is acommon hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairsof the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while itis rather rare and usually far less severe in Caucasian males
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for KRT75 (52817854 - 52828309 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for KRT75 1 CNV: 4778 Human Gene Mutation Database (HGMD): KRT75
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT75 |
|
Disorders
/ Diseases for KRT75 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KRT75 for disorders About GeneDecksing
OMIM gene information: 609025 OMIM disorders: 612318 UniProtKB/Swiss-Prot: K2C75_HUMAN, O95678
Defects in KRT75 may be a cause of loose anagen hair syndrome (LAHS) [MIM:600628]. In LAHS, anagen hairs areeasily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shaftsof reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areasof breakage 15 diseases for KRT75: About MalaCardsloose anagen hair syndrome pseudofolliculitis barbae fibrous histiocytoma malignant fibrous histiocytoma marek disease histiocytoma atopic dermatitis dermatitis alopecia pharyngitis lung cancer breast cancer esophagitis hepatitis neuronitis
1 Novoseek disease relationship for KRT75 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tumors |
0 |
2 |
8950218 (1), 7515536 (1) |
Export disorders for KRT75 gene to outside databases
|
Publications for KRT75 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KRT75 gene, integrated from 9 sources (see all 38): (articles sorted by number of sources associating them with KRT75) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A novel human type II cytokeratin, K6hf, specifically expressed in the companion layer of the hair follicle. (PubMed id 9856802)1, 2, 3, 9 Winter H.... Schweizer J. (1998)
- Characterization of a 300 kbp region of human DNA containing the type II hair keratin. (PubMed id 10692104)1, 2, 3 Rogers M.A.... Schweizer J. (2000)
- Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. (PubMed id 11939812)1, 2, 9 Chapalain V.... Taieb A. (2002)
- New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
- An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae. (PubMed id 15086549)1, 2 Winter H.... Schweizer J. (2004)
- Dermal papilla-induced hair differentiation of adult epithelial stem cells from human skin. (PubMed id 15292489)1, 2 Roh C.... Lyle S. (2004)
- Cytokeratin 75 expression in central, centrifugal, ci catricial alopecia--new observations in normal and diseased hair follicles. (PubMed id 19614992)1, 9 Sperling L.C....Darling T. (2010)
- Breast carcinoma with brain metastases: clinical analy sis and immunoprofile on tissue microarrays. (PubMed id 21427063)1 Brogi E....Seidman A.D. (2011)
- Integrative analysis of the ubiquitin proteome isolat ed using Tandem Ubiquitin Binding Entities (TUBEs). (PubMed id 22178446)1 Lopitz-Otsoa F....Rodriguez M.S. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
|
External Searches for KRT75 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KRT75 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KRT75 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KRT75 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for KRT75 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KRT75 gene: Search GeneIP for patents involving KRT75
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for KRT75 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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 | |
 | |
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 | | KRT75 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT75 |
|  |  |  | | | Search ThermoFisher Antibodies for KRT75 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT75 |
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