Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1161169.RAFpCiSG9kUnduSG7ila0VnBAm_4t5VWO8YRZ1cEYKbss#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18476955 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.