Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_assertion> ?p ?o ?g. }
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- NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_assertion type Assertion NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_head.
- NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_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." NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_provenance.
- NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_assertion evidence source_evidence_curated NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_provenance.
- NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_assertion SIO_000772 16384941 NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_provenance.
- NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_assertion wasDerivedFrom ctd_human-20130708 NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_provenance.
- NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_assertion wasGeneratedBy ECO_0000218 NP20192.RAZ-X3Af4IL174x6VHZySDsdPacKAzL04NLaVe1tDFSeE130_provenance.