|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
|
28344185 |
2017 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
|
26888179 |
2016 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development?
|
23161884 |
2013 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
|
21949523 |
2011 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
|
20101701 |
2010 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
|
20358619 |
2010 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
|
19883511 |
2009 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.
|
17979970 |
2008 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
|
16928994 |
2006 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
|
16251899 |
2006 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
|
16027248 |
2005 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygous TGFBR2 mutations in Marfan syndrome.
|
15235604 |
2004 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.
|
12975342 |
2003 |
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7048 |
| Gene Symbol: |
TGFBR2 |
TGFBR2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|