Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_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." NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_assertion evidence source_evidence_curated NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_assertion SIO_000772 21706002 NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_assertion wasDerivedFrom ctd_human-2016 NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_assertion wasGeneratedBy ECO_0000218 NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP29517.RAU1zZ1n8tABz0aEpuX0L_moU1itNf4EG6aXkqIxo3eJY130_provenance.