Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_assertion wasGeneratedBy ECO_0000218 NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_assertion wasDerivedFrom ctd_human-20150221 NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_assertion SIO_000772 18627055 NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_assertion evidence source_evidence_curated NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.
- NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_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." NP15085.RAeI0y5SywVP8kWXv5IpdF7eiReQhxkTCKZNtc45xX4Nk130_provenance.