Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_assertion description "[Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_assertion evidence source_evidence_curated NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_assertion SIO_000772 23591994 NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_assertion wasDerivedFrom uniprot-20150221 NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_assertion wasGeneratedBy ECO_0000218 NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4890.RAmdmdS-Syw4rBp1JEhwGSXV1zrXgbN3P0h5LC5O3XKHc130_provenance.