Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_assertion evidence source_evidence_literature NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_assertion SIO_000772 19641205 NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_assertion wasDerivedFrom befree-20140225 NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_assertion wasGeneratedBy ECO_0000203 NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.