Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_assertion description "[We report a new point mutation in the p63 gene in a family in which the mother was initially diagnosed with Rapp-Hodgkin syndrome and her two offspring manifested ankyloblepharon, ectodermal defects, cleft lip and palate, syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_assertion evidence source_evidence_literature NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_assertion SIO_000772 16190990 NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_assertion wasDerivedFrom befree-20140225 NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_assertion wasGeneratedBy ECO_0000203 NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP489747.RAn1qguqdqZwkpr7pLvgmw98fORLykTAoAydsyC-ZGJNA130_provenance.