Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. | 25101912 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | [Clinical and Genetic Characteristics of Russian Marfan Patients]. | 26410935 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. | 19293843 | 2009 |