Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_assertion description "[A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_assertion evidence source_evidence_curated NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_assertion SIO_000772 18627055 NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_assertion wasDerivedFrom ctd_human-2016 NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_assertion wasGeneratedBy ECO_0000218 NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP22197.RA2PFD62eUmTxrzsxmBsXZ90ChZD8Kf0kRR5w9uPelM6o130_provenance.