Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_assertion description "[A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_assertion evidence source_evidence_curated NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_assertion SIO_000772 15864348 NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_assertion wasDerivedFrom uniprot-2016 NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_assertion wasGeneratedBy ECO_0000218 NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4021.RAUWCNF_JdMqpMCKolUXbqmAfAeTfp4oUCFkdZ7K2In0g130_provenance.