Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1307813.RAXm32M74GVDMnav5letemxEHSEWyH8tpeEjzii7JFSzg#assertion> ?p ?o ?g. }
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- assertion description "[Recently, OCA4 was described as a new form of OCA in a single patient with a splice site mutation in the MATP gene (or AIM1), the human ortholog of the murine underwhite gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 14722913 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.