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- source_evidence_literature type ECO_0000212 NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_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." NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_assertion evidence source_evidence_literature NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_assertion SIO_000772 16618617 NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_assertion wasDerivedFrom befree-20150227 NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_assertion wasGeneratedBy ECO_0000203 NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP796901.RAPfjfsj5FAn68z0SOj5OzdHV3VWTQIAkcjqkyJWRFBfw130_provenance.