BRENDA - Enzyme Database show
show all sequences of 2.7.11.30

Mutation analysis of 'Endoglin' and 'Activin receptor-like kinase' genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique

Haneen, S.; Johanna, H.; Ulrich, G.; Jens, S.S.; Frank, R.; Karl, H.; Peter, B.; BMC Med. Genet. 10, 53 (2009)

Data extracted from this reference:

Application
Application
Commentary
Organism
diagnostics
next to the Curaçao criteria, genetic analysis contributes as an essential tool to a reliable diagnosis of clinically affected hereditary hemorrhagic telangiectasia patients and clinically unsymptomatic hereditary hemorrhagic telangiectasia patients, thus helping to take early preventive measures even before the occurrence of first clinical symptoms, the PCR-SSP technique can facilitate this high task of genetic analysis in routine hereditary hemorrhagic telangiectasia diagnostics and underlines the importance of using molecular diagnosis for early identification of individuals carrying mutations and being at risk of vascular complications
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
P37023
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
blood
from patients of German origin with tentative diagnosis of hereditary hemorrhagic telangiectasia
Homo sapiens
-
Application (protein specific)
Application
Commentary
Organism
diagnostics
next to the Curaçao criteria, genetic analysis contributes as an essential tool to a reliable diagnosis of clinically affected hereditary hemorrhagic telangiectasia patients and clinically unsymptomatic hereditary hemorrhagic telangiectasia patients, thus helping to take early preventive measures even before the occurrence of first clinical symptoms, the PCR-SSP technique can facilitate this high task of genetic analysis in routine hereditary hemorrhagic telangiectasia diagnostics and underlines the importance of using molecular diagnosis for early identification of individuals carrying mutations and being at risk of vascular complications
Homo sapiens
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
blood
from patients of German origin with tentative diagnosis of hereditary hemorrhagic telangiectasia
Homo sapiens
-
General Information
General Information
Commentary
Organism
malfunction
hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations, genetic linkage studies identify 2 genes primarily related to hereditary hemorrhagic telangiectasia: endoglin and activin receptor-like kinase 1, 10 different ACVRL1 mutations can be identified in 12 out of 41 hereditary hemorrhagic telangiectasia patients, including 2 deletions, 2 insertions, 1 splice site mutation and 5 missense mutations
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
malfunction
hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations, genetic linkage studies identify 2 genes primarily related to hereditary hemorrhagic telangiectasia: endoglin and activin receptor-like kinase 1, 10 different ACVRL1 mutations can be identified in 12 out of 41 hereditary hemorrhagic telangiectasia patients, including 2 deletions, 2 insertions, 1 splice site mutation and 5 missense mutations
Homo sapiens
Other publictions for EC 2.7.11.30
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [°C]
Temperature Range [°C]
Temperature Stability [°C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [°C] (protein specific)
Temperature Range [°C] (protein specific)
Temperature Stability [°C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
740796
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Mutation analysis of 'Endoglin ...
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BMC Med. Genet.
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Homo sapiens
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TGF-beta receptor kinase inhib ...
Homo sapiens
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Semi-mechanistic modelling of ...
Homo sapiens
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Smad4-dependent TGF-beta signa ...
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The activin receptor-like kina ...
Ovis aries
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Cyclin G2 is degraded through ...
Homo sapiens
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Homo sapiens
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664721
Zhang
Activin receptor-like kinase 7 ...
Rattus norvegicus
Diabetologia
49
506-518
2006
3
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664088
Peng
Kinetic characterization of no ...
Homo sapiens
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1
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1
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4
4
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1
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1
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9
1
1
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9
1
1
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664715
Desgrosellier
Activin receptor-like kinase 2 ...
Gallus gallus
Dev. Biol.
280
201-210
2005
1
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1
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1
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665640
Ungefroren
Transforming growth factor-bet ...
Homo sapiens
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665699
Lux
Human retroviral gag- and gag- ...
Homo sapiens
J. Biol. Chem.
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666443
Halder
A specific inhibitor of TGF-be ...
Homo sapiens
Neoplasia
7
509-521
2005
1
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1
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1
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663984
Ge
Selective inhibitors of type I ...
Homo sapiens
Biochem. Pharmacol.
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41-50
2004
2
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1
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1
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1
1
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-
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1
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3
-
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3
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1
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1
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664036
Ottesen
Semisynthesis of phosphovarian ...
Homo sapiens
Biochemistry
43
5698-5706
2004
2
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2
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2
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2
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4
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1
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1
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Sawyer
Synthesis and activity of new ...
Homo sapiens, Mus musculus
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2
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1
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6
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2
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2
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2
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1
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2
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2
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2
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2
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2
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6
2
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1
2
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6
6
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2
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2
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1
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2
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2
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2
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2
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665532
Kim
Activin receptor-like kinase-7 ...
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2004
1
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3
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1
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1
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3
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3
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5
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1
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1
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1
1
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3
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5
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665554
Yakymovych
Smad2 phosphorylation by type ...
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J. Biol. Chem.
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2004
1
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1
2
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2
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1
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2
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5
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1
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1
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1
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1
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1
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1
2
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2
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2
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5
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1
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1
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666283
Forrester
Tegumental expression of a nov ...
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149-156
2004
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1
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1
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3
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4
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1
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1
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4
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666359
Mazerbourg
Growth differentiation factor- ...
Rattus norvegicus
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2004
2
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1
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1
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2
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1
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3
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2
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3
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4
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1
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2
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1
1
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1
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1
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3
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3
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4
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664282
Roberts
Identification of novel isofor ...
Homo sapiens
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68
1719-1726
2003
2
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1
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1
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1
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2
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8
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2
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1
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1
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1
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8
-
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665481
Liu
Smads 2 and 3 are differential ...
Rattus norvegicus
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2003
1
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5
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1
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5
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665487
Harrison
Identification of a functional ...
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278
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2003
2
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1
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27
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1
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1
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1
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1
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1
1
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1
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2
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1
1
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27
-
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1
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1
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1
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1
1
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666312
Goumans
Activin receptor-like kinase ( ...
Mus musculus
Mol. Cell
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817-828
2003
2
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1
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1
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1
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1
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5
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1
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1
1
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5
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1
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2
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1
1
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1
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1
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1
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5
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1
1
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5
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666512
Fink
TGF-beta-induced nuclear local ...
Homo sapiens
Oncogene
22
1317-1323
2003
1
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1
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3
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1
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5
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5
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1
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1
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1
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