Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_assertion description "[Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_assertion evidence source_evidence_curated NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_assertion SIO_000772 17941886 NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_assertion wasDerivedFrom ctd_human-2016 NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_assertion wasGeneratedBy ECO_0000218 NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP20663.RAVo5cLiAk7dcY39sizqfDghfZSBVTIu6zxien9VXaHS8130_provenance.