Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. | 22829427 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. | 19836010 | 2009 |