Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion> ?p ?o ?g. }
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- NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_assertion type Assertion NP390860.RAAEkEvEnIpRTRtlfvoWZ5t803j0qhba5cEESnDVLdcXY130_head.
- 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.