Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. | 19293843 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. | 16220557 | 2005 |