Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion description "[Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion evidence source_evidence_curated NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion SIO_000772 10323730 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion wasDerivedFrom uniprot-20150221 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_assertion wasGeneratedBy ECO_0000218 NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2891.RA63CTBE-9JkzD_I7pgGUVzyefz8kNK9eoavQ7c_-7LuA130_provenance.