Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_assertion description "[In 12 patients the cause was clarified.Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antim�llerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_assertion evidence source_evidence_curated NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_assertion SIO_000772 9329414 NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_assertion wasDerivedFrom uniprot-2016 NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_assertion wasGeneratedBy ECO_0000218 NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9521.RAxwU6jwl4NkoS9yUyb7ScrOZ8kymYwEJCr32vBl1Ll4E130_provenance.