Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_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." NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion evidence source_evidence_literature NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion SIO_000772 17204049 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion wasDerivedFrom befree-2016 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion wasGeneratedBy ECO_0000203 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- befree-2016 importedOn "2016-02-19" NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.