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- source_evidence_literature type ECO_0000212 NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_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." NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_assertion evidence source_evidence_literature NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_assertion SIO_000772 9035203 NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_assertion wasDerivedFrom befree-2016 NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_assertion wasGeneratedBy ECO_0000203 NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1367509.RAvL3etNhkFEjf2n-5rxmxMxa6VP2upS2blCIaYP2s0bk130_provenance.