Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion> ?p ?o ?g. }
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- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion type Assertion NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_head.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion description "[Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion evidence source_evidence_curated NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion SIO_000772 15467982 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion wasDerivedFrom uniprot-20150221 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion wasGeneratedBy ECO_0000218 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.