Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion wasGeneratedBy ECO_0000203 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion wasDerivedFrom befree-20140225 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion SIO_000772 17943323 NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion evidence source_evidence_literature NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_assertion description "[Recently, mutations in the LAMB2 gene encoding laminin beta2 were described as the cause of Pierson syndrome, which is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.
- befree-20140225 importedOn "2014-02-25" NP548448.RAte7m0hjUVYBDBVxTNGhHeXgrr8Ckx-bSb22T7SRhJ9Q130_provenance.