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- source_evidence_literature type ECO_0000212 NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_assertion description "[To estimate the frequency of JAG1 mutations in cases with right-sided cardiac defects not otherwise diagnosed with AGS, we screened 94 cases with tetralogy of Fallot (TOF) and 50 with pulmonic stenosis/peripheral pulmonary stenosis (PS/PPS) or pulmonary valve atresia with intact ventricular septum (PA) for mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_assertion evidence source_evidence_literature NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_assertion SIO_000772 20437614 NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_assertion wasDerivedFrom befree-20150227 NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_assertion wasGeneratedBy ECO_0000203 NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228714.RAtEUFO_Y3sz-b13Ru6CMk1Q_08GznRSxbW_CxX1wfM6g130_provenance.