|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
|
19293843 |
2009 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Marfan Database (third edition): new mutations and new routines for the software.
|
9399842 |
1998 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
|
rs137854480
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
|
18079676 |
2007 |
|
rs137854480
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
|
12446365 |
2002 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
|
9254848 |
1997 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
|
8004112 |
1994 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
|
10441597 |
1999 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
rs137854480
|
|
|
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 |
|
rs137854480
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |