Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_assertion description "[The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_assertion evidence source_evidence_literature NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_assertion SIO_000772 22350371 NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_assertion wasDerivedFrom befree-20140225 NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_assertion wasGeneratedBy ECO_0000203 NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP671700.RA0TAotKFPxwALc2TaQrabcRU_Nyxxb36gYwiJHQc7S_U130_provenance.