Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. | 22113417 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. | 18084123 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. | 17652900 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Aneurysm syndromes caused by mutations in the TGF-beta receptor. | 16928994 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Heterozygous TGFBR2 mutations in Marfan syndrome. | 15235604 | 2004 |