Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_assertion description "[Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_assertion evidence source_evidence_curated NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_assertion SIO_000772 25362483 NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_assertion wasDerivedFrom ctd_human-2016 NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_assertion wasGeneratedBy ECO_0000218 NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP34974.RAl_jxUcObO4qDil6OTUlqtuxE3Sv61pXjoI4y81nUW_A130_provenance.