Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion> ?p ?o ?g. }
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- NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion type Assertion NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_head.
- NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_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." NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance.
- NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion evidence source_evidence_literature NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance.
- NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion SIO_000772 18476955 NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance.
- NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion wasDerivedFrom befree-20150227 NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance.
- NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion wasGeneratedBy ECO_0000203 NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance.