Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_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." NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_assertion evidence source_evidence_curated NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_assertion SIO_000772 23591994 NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_assertion wasDerivedFrom uniprot-2016 NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_assertion wasGeneratedBy ECO_0000218 NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7450.RAfvj-I_ZPAcJdp9W4p-2x-HES3wjSH5H8jScIkd5N3hw130_provenance.