rs137854474
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
rs137854474
|
|
|
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 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
|
7951214 |
1994 |
rs137854474
|
|
|
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 |
rs137854474
|
|
|
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 |
rs137854474
|
|
|
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 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new missense mutation of fibrillin in a patient with Marfan syndrome.
|
8071963 |
1994 |
rs137854474
|
|
|
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 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
|
8281141 |
1993 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
rs137854474
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |
rs137854474
|
|
|
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 |