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PHKG2 cDNA ORF clone, Homo sapiens (human)

Gene Symbol PHKG2
Entrez Gene ID 5261
Full Name phosphorylase kinase, gamma 2 (testis)
Synonyms GSD9C
General protein information
Preferred Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
PSK-C3
PHK-gamma-T
PHK-gamma-LT
phosphorylase kinase subunit gamma-2
serine/threonine-protein kinase PHKG2
Phosphorylase kinase, gamma 2 (testis/liver)
phosphorylase b kinase gamma catalytic chain, testis/liver isoform
NP_000285.1
NP_001165903.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p11.2

Summary Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. lac of sum
Disorder MIM:

172471

Disorder Html: Glycogen storage disease IXc, 613027 (3); Cirrhosis due to liver

mRNA and Protein(s)

mRNA Protein Name
NM_001172432 NP_001165903 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2
NM_000294 NP_000285 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1



Homo sapiens (human) PHKG2 NP_000285.1
Pan troglodytes (chimpanzee) PHKG2 XP_001144282.2
Macaca mulatta (Rhesus monkey) LOC100423096 XP_002802499.1
Canis lupus familiaris (dog) PHKG2 XP_005621329.1
Bos taurus (cattle) PHKG2 NP_001039593.1
Mus musculus (house mouse) Phkg2 NP_081164.2
Danio rerio (zebrafish) phkg2 NP_957256.1
Drosophila melanogaster (fruit fly) PhKgamma NP_727548.1
Caenorhabditis elegans Y50D7A.3 NP_497181.2


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following PHKG2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PHKG2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu21036 NM_001172432 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
OHu23652
NM_000294 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu21036
Clone ID Related Accession (Same CDS sequence) NM_001172432
Accession Version NM_001172432.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1125bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC106886.3, AK293551.1 and CA449954.1. Transcript Variant: This variant (2) lacks an internal segment in the 3' region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK293551.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
ATGACGCTGG ACGTGGGGCC GGAGGATGAG CTGCCCGACT GGGCCGCCGC CAAAGAGTTT 
TACCAGAAGT ACGACCCTAA GGACGTCATC GGCAGAGGAG TGAGCTCTGT GGTCCGCCGT
TGTGTTCATC GAGCTACTGG CCACGAGTTT GCGGTGAAGA TTATGGAAGT GACAGCTGAG
CGGCTGAGTC CTGAGCAGCT GGAGGAGGTG CGGGAAGCCA CACGGCGAGA GACACACATC
CTTCGCCAGG TCGCCGGCCA CCCCCACATC ATCACCCTCA TCGATTCCTA CGAGTCTTCT
AGCTTCATGT TCCTGGTGTT TGACCTGATG CGGAAGGGAG AGCTGTTTGA CTATCTCACA
GAGAAGGTGG CCCTCTCTGA AAAGGAAACC AGGTCCATCA TGCGGTCTCT GCTGGAAGCA
GTGAGCTTTC TCCATGCCAA CAACATTGTG CATCGAGATC TGAAGCCCGA GAATATTCTC
CTAGATGACA ATATGCAGAT CCGACTTTCA GATTTCGGGT TCTCCTGCCA CTTGGAACCT
GGCGAGAAGC TTCGAGAGTT GTGTGGGACC CCAGGGTATC TAGCGCCAGA GATCCTTAAA
TGCTCCATGG ATGAAACCCA CCCAGGCTAT GGCAAGGAGG TCGACCTCTG GGCCTGTGGG
GTGATCTTGT TCACACTCCT GGCTGGCTCG CCACCCTTCT GGCACCGGCG GCAGATCCTG
ATGTTACGCA TGATCATGGA GGGCCAGTAC CAGTTCAGTT CCCCCGAGTG GGATGACCGT
TCCAGCACTG TCAAAGACCT GATCTCCAGG CTGCTGCAGG TGGATCCTGA GGCACGCCTG
ACAGCTGAGC AGGCCCTACA GCACCCCTTC TTTGAGCGTT GTGAAGGCAG CCAACCCTGG
AACCTCACCC CCCGCCAGCG GTTCCGGGTG GCAGTGTGGA CAGTGCTGGC TGCTGGACGA
GTGGCCCTAA GCACCCATCG TGTACGGCCA CTGACCAAGA ATGCACTGTT GAGGGACCCT
TATGCGCTGC GGTCAGTGCG GCACCTCATC GACAACTGTG CCTTCCGGCT CTACGGGCAC
TGGATAAGGA AGCAGTGGAT TGGAAAGCTG ATGGCTTGTG TATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001165903.1
CDS211..1335
Misc Feature(1)247..1083(+)
Misc Feature(2)280..1083(+)
Misc Feature(3)298..792(+)
Misc Feature(4)298..723(+)
Misc Feature(5)310..792(+)
Misc Feature(6)718..786(+)
Misc Feature(7)1126..1200(+)
Exon (1)1..192
Gene:PHKG2
Gene Synonym:
Exon (2)193..305
Gene:PHKG2
Gene Synonym:
Exon (3)306..481
Gene:PHKG2
Gene Synonym:
Exon (4)482..536
Gene:PHKG2
Gene Synonym:
Exon (5)537..602
Gene:PHKG2
Gene Synonym:
Exon (6)603..766
Gene:PHKG2
Gene Synonym:
Exon (7)767..857
Gene:PHKG2
Gene Synonym:
Exon (8)858..1011
Gene:PHKG2
Gene Synonym:
Exon (9)1012..1137
Gene:PHKG2
Gene Synonym:
Exon (10)1138..1293
Gene:PHKG2
Gene Synonym:
Exon (11)1294..2351
Gene:PHKG2
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001172432
Organism Homo sapiens (human)
Definition Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001172432

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
ATGACGCTGG ACGTGGGGCC GGAGGATGAG CTGCCCGACT GGGCCGCCGC CAAAGAGTTT 
TACCAGAAGT ACGACCCTAA GGACGTCATC GGCAGAGGAG TGAGCTCTGT GGTCCGCCGT
TGTGTTCATC GAGCTACTGG CCACGAGTTT GCGGTGAAGA TTATGGAAGT GACAGCTGAG
CGGCTGAGTC CTGAGCAGCT GGAGGAGGTG CGGGAAGCCA CACGGCGAGA GACACACATC
CTTCGCCAGG TCGCCGGCCA CCCCCACATC ATCACCCTCA TCGATTCCTA CGAGTCTTCT
AGCTTCATGT TCCTGGTGTT TGACCTGATG CGGAAGGGAG AGCTGTTTGA CTATCTCACA
GAGAAGGTGG CCCTCTCTGA AAAGGAAACC AGGTCCATCA TGCGGTCTCT GCTGGAAGCA
GTGAGCTTTC TCCATGCCAA CAACATTGTG CATCGAGATC TGAAGCCCGA GAATATTCTC
CTAGATGACA ATATGCAGAT CCGACTTTCA GATTTCGGGT TCTCCTGCCA CTTGGAACCT
GGCGAGAAGC TTCGAGAGTT GTGTGGGACC CCAGGGTATC TAGCGCCAGA GATCCTTAAA
TGCTCCATGG ATGAAACCCA CCCAGGCTAT GGCAAGGAGG TCGACCTCTG GGCCTGTGGG
GTGATCTTGT TCACACTCCT GGCTGGCTCG CCACCCTTCT GGCACCGGCG GCAGATCCTG
ATGTTACGCA TGATCATGGA GGGCCAGTAC CAGTTCAGTT CCCCCGAGTG GGATGACCGT
TCCAGCACTG TCAAAGACCT GATCTCCAGG CTGCTGCAGG TGGATCCTGA GGCACGCCTG
ACAGCTGAGC AGGCCCTACA GCACCCCTTC TTTGAGCGTT GTGAAGGCAG CCAACCCTGG
AACCTCACCC CCCGCCAGCG GTTCCGGGTG GCAGTGTGGA CAGTGCTGGC TGCTGGACGA
GTGGCCCTAA GCACCCATCG TGTACGGCCA CTGACCAAGA ATGCACTGTT GAGGGACCCT
TATGCGCTGC GGTCAGTGCG GCACCTCATC GACAACTGTG CCTTCCGGCT CTACGGGCAC
TGGATAAGGA AGCAGTGGAT TGGAAAGCTG ATGGCTTGTG TATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu23652
Clone ID Related Accession (Same CDS sequence) NM_000294
Accession Version NM_000294.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1221bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC106886.3 and M31606.1. This sequence is a reference standard in the RefSeqGene project. On Feb 18, 2010 this sequence version replaced gi:4505784. Transcript Variant: This variant (1) encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M31606.1, AK289492.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END##

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
ATGACGCTGG ACGTGGGGCC GGAGGATGAG CTGCCCGACT GGGCCGCCGC CAAAGAGTTT 
TACCAGAAGT ACGACCCTAA GGACGTCATC GGCAGAGGAG TGAGCTCTGT GGTCCGCCGT
TGTGTTCATC GAGCTACTGG CCACGAGTTT GCGGTGAAGA TTATGGAAGT GACAGCTGAG
CGGCTGAGTC CTGAGCAGCT GGAGGAGGTG CGGGAAGCCA CACGGCGAGA GACACACATC
CTTCGCCAGG TCGCCGGCCA CCCCCACATC ATCACCCTCA TCGATTCCTA CGAGTCTTCT
AGCTTCATGT TCCTGGTGTT TGACCTGATG CGGAAGGGAG AGCTGTTTGA CTATCTCACA
GAGAAGGTGG CCCTCTCTGA AAAGGAAACC AGGTCCATCA TGCGGTCTCT GCTGGAAGCA
GTGAGCTTTC TCCATGCCAA CAACATTGTG CATCGAGATC TGAAGCCCGA GAATATTCTC
CTAGATGACA ATATGCAGAT CCGACTTTCA GATTTCGGGT TCTCCTGCCA CTTGGAACCT
GGCGAGAAGC TTCGAGAGTT GTGTGGGACC CCAGGGTATC TAGCGCCAGA GATCCTTAAA
TGCTCCATGG ATGAAACCCA CCCAGGCTAT GGCAAGGAGG TCGACCTCTG GGCCTGTGGG
GTGATCTTGT TCACACTCCT GGCTGGCTCG CCACCCTTCT GGCACCGGCG GCAGATCCTG
ATGTTACGCA TGATCATGGA GGGCCAGTAC CAGTTCAGTT CCCCCGAGTG GGATGACCGT
TCCAGCACTG TCAAAGACCT GATCTCCAGG CTGCTGCAGG TGGATCCTGA GGCACGCCTG
ACAGCTGAGC AGGCCCTACA GCACCCCTTC TTTGAGCGTT GTGAAGGCAG CCAACCCTGG
AACCTCACCC CCCGCCAGCG GTTCCGGGTG GCAGTGTGGA CAGTGCTGGC TGCTGGACGA
GTGGCCCTAA GCACCCATCG TGTACGGCCA CTGACCAAGA ATGCACTGTT GAGGGACCCT
TATGCGCTGC GGTCAGTGCG GCACCTCATC GACAACTGTG CCTTCCGGCT CTACGGGCAC
TGGGTAAAGA AAGGGGAGCA GCAGAACCGG GCGGCTCTCT TTCAGCACCG GCCCCCTGGG
CCTTTTCCCA TCATGGGCCC TGAAGAGGAG GGAGACTCTG CTGCTATAAC TGAGGATGAG
GCCGTGCTTG TGCTGGGCTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000285.1
CDS211..1431
Misc Feature(1)247..1083(+)
Misc Feature(2)280..1083(+)
Misc Feature(3)298..792(+)
Misc Feature(4)298..723(+)
Misc Feature(5)310..792(+)
Misc Feature(6)718..786(+)
Misc Feature(7)1126..1200(+)
Misc Feature(8)1246..1320(+)
Exon (1)1..192
Gene:PHKG2
Gene Synonym:
Exon (2)193..305
Gene:PHKG2
Gene Synonym:
Exon (3)306..481
Gene:PHKG2
Gene Synonym:
Exon (4)482..536
Gene:PHKG2
Gene Synonym:
Exon (5)537..602
Gene:PHKG2
Gene Synonym:
Exon (6)603..766
Gene:PHKG2
Gene Synonym:
Exon (7)767..857
Gene:PHKG2
Gene Synonym:
Exon (8)858..1011
Gene:PHKG2
Gene Synonym:
Exon (9)1012..1137
Gene:PHKG2
Gene Synonym:
Exon (10)1138..5503
Gene:PHKG2
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000294
Organism Homo sapiens (human)
Definition Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000294

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
ATGACGCTGG ACGTGGGGCC GGAGGATGAG CTGCCCGACT GGGCCGCCGC CAAAGAGTTT 
TACCAGAAGT ACGACCCTAA GGACGTCATC GGCAGAGGAG TGAGCTCTGT GGTCCGCCGT
TGTGTTCATC GAGCTACTGG CCACGAGTTT GCGGTGAAGA TTATGGAAGT GACAGCTGAG
CGGCTGAGTC CTGAGCAGCT GGAGGAGGTG CGGGAAGCCA CACGGCGAGA GACACACATC
CTTCGCCAGG TCGCCGGCCA CCCCCACATC ATCACCCTCA TCGATTCCTA CGAGTCTTCT
AGCTTCATGT TCCTGGTGTT TGACCTGATG CGGAAGGGAG AGCTGTTTGA CTATCTCACA
GAGAAGGTGG CCCTCTCTGA AAAGGAAACC AGGTCCATCA TGCGGTCTCT GCTGGAAGCA
GTGAGCTTTC TCCATGCCAA CAACATTGTG CATCGAGATC TGAAGCCCGA GAATATTCTC
CTAGATGACA ATATGCAGAT CCGACTTTCA GATTTCGGGT TCTCCTGCCA CTTGGAACCT
GGCGAGAAGC TTCGAGAGTT GTGTGGGACC CCAGGGTATC TAGCGCCAGA GATCCTTAAA
TGCTCCATGG ATGAAACCCA CCCAGGCTAT GGCAAGGAGG TCGACCTCTG GGCCTGTGGG
GTGATCTTGT TCACACTCCT GGCTGGCTCG CCACCCTTCT GGCACCGGCG GCAGATCCTG
ATGTTACGCA TGATCATGGA GGGCCAGTAC CAGTTCAGTT CCCCCGAGTG GGATGACCGT
TCCAGCACTG TCAAAGACCT GATCTCCAGG CTGCTGCAGG TGGATCCTGA GGCACGCCTG
ACAGCTGAGC AGGCCCTACA GCACCCCTTC TTTGAGCGTT GTGAAGGCAG CCAACCCTGG
AACCTCACCC CCCGCCAGCG GTTCCGGGTG GCAGTGTGGA CAGTGCTGGC TGCTGGACGA
GTGGCCCTAA GCACCCATCG TGTACGGCCA CTGACCAAGA ATGCACTGTT GAGGGACCCT
TATGCGCTGC GGTCAGTGCG GCACCTCATC GACAACTGTG CCTTCCGGCT CTACGGGCAC
TGGGTAAAGA AAGGGGAGCA GCAGAACCGG GCGGCTCTCT TTCAGCACCG GCCCCCTGGG
CCTTTTCCCA TCATGGGCCC TGAAGAGGAG GGAGACTCTG CTGCTATAAC TGAGGATGAG
GCCGTGCTTG TGCTGGGCTA G

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Glycogen storage disease type IX: High variability in clinical phenotype
Mol. Genet. Metab. 92 (1-2), 88-99 (2007)
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S and Sharrard M.


book

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene
Pediatr. Res. 54 (6), 834-839 (2003)
Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK and Kilimann MW.


book

Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
J. Med. Genet. 37 (5), 376-377 (2000)
Burwinkel,B., Tanner,M.S. and Kilimann,M.W.


book

Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure
Front. Biosci. 4, D618-D641 (1999)
Brushia RJ and Walsh DA.


book

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis
Hum. Mol. Genet. 7 (1), 149-154 (1998)
Burwinkel B, Shiomi S, Al Zaben A and Kilimann MW.


book

Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit
Mol. Cell. Biochem. 127-128, 7-18 (1993)
Huang CY, Yuan CJ, Livanova NB and Graves DJ.


book

Phosphorylase Kinase Deficiency
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Goldstein,J., Austin,S., Kishnani,P. and Bali,D.


book

Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis
Mol. Endocrinol. 3 (1), 110-116 (1989)
Hanks SK.


book

Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family
Proc. Natl. Acad. Sci. U.S.A. 84 (2), 388-392 (1987)
Hanks,S.K.


book

Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance
Eur. J. Pediatr. 139 (3), 210 (1982)
Sovik,O., deBarsy,T. and Maehle,B.


 
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