Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_assertion description "[PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_assertion evidence source_evidence_curated NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_assertion SIO_000772 10679952 NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_assertion wasDerivedFrom ctd_human-20130708 NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_assertion wasGeneratedBy ECO_0000218 NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP31123.RAQe_aW2AW7o_m6h7mcrqUUNpOmWngEAtk_Hlor5f7y4M130_provenance.