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- source_evidence_literature type ECO_0000212 NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_assertion description "[Heterozygous mutations in the human transcription factor gene NKX2.5 are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect-II (ASD-II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_assertion evidence source_evidence_literature NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_assertion SIO_000772 20456451 NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_assertion wasDerivedFrom befree-20150227 NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_assertion wasGeneratedBy ECO_0000203 NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.
- befree-20150227 importedOn "2015-02-27" NP334033.RAcD1DFXrpzLNZakd6LqDAGTbuUqgol8AFUfl3yA5AK8E130_provenance.