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- source_evidence_literature type ECO_0000212 NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_assertion description "[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_assertion evidence source_evidence_literature NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_assertion SIO_000772 16618617 NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_assertion wasDerivedFrom befree-20140225 NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_assertion wasGeneratedBy ECO_0000203 NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP340310.RA483QNrUkHcAh7duNPMDFnBtUYHpBK0aAj2kerOiv8y4130_provenance.