Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_assertion description "[Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_assertion evidence source_evidence_literature NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_assertion SIO_000772 9035203 NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_assertion wasDerivedFrom befree-20140225 NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_assertion wasGeneratedBy ECO_0000203 NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP922494.RAHe2Wkq-ejPOAo3LhSKD1xcrOfqh_bl9k-WnIVH7IhLE130_provenance.