Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_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." NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_assertion evidence source_evidence_literature NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_assertion SIO_000772 8990006 NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_assertion wasDerivedFrom befree-2016 NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_assertion wasGeneratedBy ECO_0000203 NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1365491.RAK7oZv6_uxcDMMxh8KUQBRNDWCtvAoz9pmKeZJDRshHA130_provenance.