Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_assertion description "[A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_assertion evidence source_evidence_curated NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_assertion SIO_000772 8990006 NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_assertion wasDerivedFrom ctd_human-2016 NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_assertion wasGeneratedBy ECO_0000218 NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP37365.RAGJvGCBJPK00vejBCuwYU9No7BA1gDzCOCbJXPYe8b68130_provenance.