Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion description "[The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 coding region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion evidence source_evidence_literature NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion SIO_000772 17204049 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion wasDerivedFrom befree-20140225 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_assertion wasGeneratedBy ECO_0000203 NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP522345.RAINwA_87d3CzreuV71QJW0IYipR9gXnYNdmC31P1fbdg130_provenance.