Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_assertion description "[A nonsense mutation of PEPD in four Amish children with prolidase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_assertion evidence source_evidence_curated NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_assertion SIO_000772 16470701 NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_assertion wasDerivedFrom ctd_human-2016 NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_assertion wasGeneratedBy ECO_0000218 NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP17025.RAF4htYdoVtqmefMij1Wyb3Q0Mj6lGvGM19_WH5zD_MQM130_provenance.