Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. | 11826022 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. | 9338581 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques. | 7911051 | 1994 |