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- source_evidence_literature type ECO_0000212 NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_assertion description "[Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_assertion evidence source_evidence_literature NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_assertion SIO_000772 21932603 NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_assertion wasDerivedFrom befree-20150227 NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_assertion wasGeneratedBy ECO_0000203 NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP429049.RAM3sfoY8bvL1eqsbOu9cZJU-eDqC14BHMV78UHogHHT0130_provenance.