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- source_evidence_literature type ECO_0000212 NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion wasGeneratedBy ECO_0000203 NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion wasDerivedFrom befree-20150227 NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion SIO_000772 12649809 NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion evidence source_evidence_literature NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.
- NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_assertion description "[We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228698.RAKXRtyS3urK9bt2qWPTdy-NfAJNLv8jniWCVXYxGzU8M130_provenance.