Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_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." NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion evidence source_evidence_literature NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion SIO_000772 17204049 NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion wasDerivedFrom befree-20140225 NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_assertion wasGeneratedBy ECO_0000203 NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP284118.RAlSBGNvUfegV_PE9itbds0fyFkLL5n5BOFmavfGV7lTQ130_provenance.