Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion type Assertion NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_head.
- NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion description "[Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene (12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe) and production of the phenylketonuria (PKU) disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_provenance.
- NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion evidence source_evidence_literature NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_provenance.
- NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion SIO_000772 12714182 NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_provenance.
- NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion wasDerivedFrom befree-2016 NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_provenance.
- NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_assertion wasGeneratedBy ECO_0000203 NP392234.RARmhsD9nxJikX-dtBRGUbGKahbUOX03BxkPpfXAtSCJk130_provenance.