Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_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." NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_assertion evidence source_evidence_literature NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_assertion SIO_000772 16190990 NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_assertion wasDerivedFrom befree-2016 NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_assertion wasGeneratedBy ECO_0000203 NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP515504.RAHwOy_4teHbTVKkitZkUSLIxf8nz7cwxKA0m2A-NBvAQ130_provenance.