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- source_evidence_literature type ECO_0000212 NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_assertion description "[Patients with JPS due to a SMAD4 mutation should be screened for the vascular lesions associated with HHT, especially occult AVMs in visceral organs, which may potentially present catastrophically with serious medical consequences.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_assertion evidence source_evidence_literature NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_assertion SIO_000772 20685751 NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_assertion wasDerivedFrom befree-20150227 NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_assertion wasGeneratedBy ECO_0000203 NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP544346.RAvhGuSHFPksVl9YLnFkfCQkDDPe3Q_-pMphGivPGX3dE130_provenance.