rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
|
16791849 |
2006 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
|
21522183 |
2011 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
|
25173340 |
2014 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
|
16928994 |
2006 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
|
16596670 |
2006 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
rs111426349
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
|
19883511 |
2009 |
rs111854391
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
|
16791849 |
2006 |
rs111854391
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
|
19883511 |
2009 |
rs111854391
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
rs111854391
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
|
16928994 |
2006 |
rs111854391
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
|
16596670 |
2006 |
rs111854391
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
rs113605875
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
|
21522183 |
2011 |
rs113605875
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs113605875
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs113605875
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
|
25173340 |
2014 |
rs113605875
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs113605875
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |