Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_assertion description "[Independently, another group has recently observed SRD5A3 mutations in several families with a type 1 congenital disorder of glycosylation (CDG type Ix, OMIM 212067), mental retardation, cerebellar ataxia and eye disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_assertion evidence source_evidence_literature NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_assertion SIO_000772 20700148 NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_assertion wasDerivedFrom befree-20140225 NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_assertion wasGeneratedBy ECO_0000203 NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP645759.RA9T2bWjm0c9aFhvFjcRoop0TjHSpQGB4Tac19hxILmRA130_provenance.