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- source_evidence_literature type ECO_0000212 NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_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." NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_assertion evidence source_evidence_literature NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_assertion SIO_000772 23910461 NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_assertion wasDerivedFrom befree-20150227 NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_assertion wasGeneratedBy ECO_0000203 NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP643747.RApsOdSnDQdpzcFxnWJyk3zPlLZg30J-sDXydgFTnDKc0130_provenance.