Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_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." NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_assertion evidence source_evidence_literature NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_assertion SIO_000772 17204049 NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_assertion wasDerivedFrom befree-20140225 NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_assertion wasGeneratedBy ECO_0000203 NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP502739.RAPqs32vq5wO3FgH4FUSzfvoYbbLHIcEqU0b2LXkJwsqY130_provenance.