Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_assertion wasGeneratedBy ECO_0000203 NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_assertion wasDerivedFrom befree-20140225 NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_assertion SIO_000772 12577200 NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_assertion evidence source_evidence_literature NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_assertion description "[We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP842927.RAvqcEWpoD5HafeHM7LfzjdK6NbNDsvVPZhh92k9yfa7I130_provenance.