Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion description "[A patient with nevoid basal-cell carcinoma syndrome and West syndrome/patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion evidence source_evidence_literature NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion SIO_000772 17950424 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion wasDerivedFrom lhgdn-20090331 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion wasGeneratedBy ECO_0000203 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.