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- source_evidence_literature type ECO_0000212 NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion description "[Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion evidence source_evidence_literature NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion SIO_000772 12694234 NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion wasDerivedFrom befree-2016 NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion wasGeneratedBy ECO_0000203 NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.
- befree-2016 importedOn "2016-02-19" NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_provenance.