Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP594323.RAnUpXv-U9Tbb2P1MoJDl7-FCXYJVmrWBQWZ708e53wpY#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16384941 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.