Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_assertion> ?p ?o ?g. }
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- NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_assertion type Assertion NP20194.RAbIUti1d4-f4An9RZ_2sDCeJqqsdYp8VxW4F5J2XFBaU130_head.
- 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.