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- source_evidence_literature type ECO_0000212 NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_assertion description "[These include the hyperinsulinism/hyperammonemia syndrome caused by dominant activating mutations of GLUD1 which interfere with inhibitory regulation by GTP and hyperinsulinism due to recessive deficiency of short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD, encoded by HADH1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_assertion evidence source_evidence_literature NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_assertion SIO_000772 21130127 NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_assertion wasDerivedFrom befree-2016 NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_assertion wasGeneratedBy ECO_0000203 NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.
- befree-2016 importedOn "2016-02-19" NP856891.RA8To1g7rLfOI8Qa-e61UMmG7_k43u-1fMUl2P0J5V85g130_provenance.