Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_assertion description "[We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_assertion evidence source_evidence_curated NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_assertion SIO_000772 8265607 NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_assertion wasDerivedFrom ctd_human-20150221 NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_assertion wasGeneratedBy ECO_0000218 NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP12041.RAYY0YJlRmy-9JjvtmxU8J3TV5h9yF_jqXM_Wlk5Q-h0A130_provenance.