Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_assertion wasGeneratedBy ECO_0000218 NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_assertion wasDerivedFrom ctd_human-20130708 NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_assertion SIO_000772 16384941 NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_assertion evidence source_evidence_curated NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_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." NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_provenance.