Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_assertion description "[For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_assertion evidence source_evidence_literature NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_assertion SIO_000772 21267006 NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_assertion wasDerivedFrom befree-20140225 NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_assertion wasGeneratedBy ECO_0000203 NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP501758.RAvNhqJT5KBg-8gufr7Wmtu_Zaxn8ZmmNZbB49JQJ25mI130_provenance.