Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_assertion description "[Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_assertion evidence source_evidence_curated NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_assertion SIO_000772 19559301 NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_assertion wasDerivedFrom ctd_human-20130708 NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_assertion wasGeneratedBy ECO_0000218 NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP22346.RAFji5t56Z6-qkZGt7JuwgDg0tZHTJ-b_85w1ENsQGG2E130_provenance.