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- source_evidence_literature type ECO_0000212 NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_assertion description "[Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoracic aortic disease provides further evidence that proper SMC contractile function is critical for maintaining the integrity of the thoracic aorta throughout a lifetime.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_assertion evidence source_evidence_literature NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_assertion SIO_000772 23910461 NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_assertion wasDerivedFrom befree-20140225 NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_assertion wasGeneratedBy ECO_0000203 NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP185449.RAf7RnRchfoBj2fJ4dGMi9KN8l7L5ND_Lg9UYlTEYGjK0130_provenance.