Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_assertion> ?p ?o ?g. }
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- NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_assertion type Assertion NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_head.
- NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_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." NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_provenance.
- NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_assertion evidence source_evidence_literature NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_provenance.
- NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_assertion SIO_000772 18476955 NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_provenance.
- NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_assertion wasDerivedFrom befree-20150227 NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_provenance.
- NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_assertion wasGeneratedBy ECO_0000203 NP806710.RAP6028qcXyuMVu5nQcpNnwu9bbkbDUMVM8g84GwJgyl4130_provenance.