rs140593
|
|
|
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 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
rs140593
|
|
|
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 |
rs140593
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.
|
11780406 |
2001 |
rs140593
|
|
|
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 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
rs140593
|
|
|
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 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
rs140593
|
|
|
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 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
rs140593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
rs140593
|
|
|
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 |