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- source_evidence_literature type ECO_0000212 NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_assertion description "[Recent evidence suggests that mutations in HADH cause HH that is precipitated by protein in a similar manner to the hyperinsulinism/hyperammonemia (HI/HA) syndrome, which is caused by mutations in the GLUD1 gene, encoding the enzyme glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_assertion evidence source_evidence_literature NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_assertion SIO_000772 23253615 NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_assertion wasDerivedFrom befree-2016 NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_assertion wasGeneratedBy ECO_0000203 NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.
- befree-2016 importedOn "2016-02-19" NP1037373.RAAgkCrbG7lYQMJMvwah5DFhaOnsfatf5JjV-bYD-q8g0130_provenance.