Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- befree-2016 importedOn "2016-02-19" NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_assertion wasGeneratedBy ECO_0000203 NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_assertion wasDerivedFrom befree-2016 NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_assertion SIO_000772 21504429 NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_assertion evidence source_evidence_literature NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.
- NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_assertion description "[We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP888277.RAZp9oZNF38rQ07OHsrrnKfTzQM-POBlfrdE1Bgr7UMN8130_provenance.