Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_assertion description "[De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_assertion evidence source_evidence_curated NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_assertion SIO_000772 21706002 NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_assertion wasDerivedFrom ctd_human-20150221 NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_assertion wasGeneratedBy ECO_0000218 NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP7605.RACNOM9QQfrYGoLtc5fkKUgapw4TF-ZZEegdwKu2mXTq4130_provenance.