|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
|
19863550 |
2010 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
|
17627385 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
|
17253931 |
2006 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
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 |
|
rs111401431
|
|
Marfan Syndrome
|
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 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.
|
10930463 |
2000 |