rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112375043
|
|
Marfan Syndrome
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112375043
|
|
Marfan Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs112375043
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs112660651
|
|
Marfan Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112660651
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs112660651
|
|
Marfan Syndrome
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
|
21895641 |
2012 |
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
|
19293843 |
2009 |
rs112728248
|
|
Marfan Syndrome
|
T |
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 |
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |
rs112728248
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
rs112836174
|
|
Marfan Syndrome
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
|
19349279 |
2009 |
rs112836174
|
|
Marfan Syndrome
|
G |
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 |
rs112836174
|
|
Marfan Syndrome
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
|
16905551 |
2006 |
rs112836174
|
|
Marfan Syndrome
|
G |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs112836174
|
|
Marfan Syndrome
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
|
12402346 |
2002 |
rs113544411
|
|
Marfan Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
|
19349279 |
2009 |
rs113544411
|
|
Marfan Syndrome
|
C |
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 |
rs113544411
|
|
Marfan Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs113544411
|
|
Marfan Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
|
16905551 |
2006 |
rs113544411
|
|
Marfan Syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |