Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion> ?p ?o ?g. }
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- NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion type Assertion NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_head.
- NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion description "[Mutations in human AHI1 underlie the autosomal recessive Joubert Syndrome with brain malformation and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_provenance.
- NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion evidence source_evidence_literature NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_provenance.
- NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion SIO_000772 16773125 NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_provenance.
- NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion wasDerivedFrom befree-2016 NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_provenance.
- NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_assertion wasGeneratedBy ECO_0000203 NP554488.RAAT5R6xN6Dcr5xsql7NlcmzaW7nqiyK8ClirQVBF5jt0130_provenance.