Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). | 24793577 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. | 22736615 | 2012 |
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|
T | 0.700 | 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 |
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|
T | 0.700 | CausalMutation | CLINVAR | Fibrillin-1 misfolding and disease. | 16677079 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. | 10486319 | 1999 |
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|
T | 0.700 | CausalMutation | CLINVAR | The solution structure of human epidermal growth factor. | 3495735 | 1987 |
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|
T | 0.700 | CausalMutation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 |