Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_assertion description "[These biallelic RTEL1 mutations are responsible for a major subgroup (?29%) of HHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_assertion evidence source_evidence_literature NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_assertion SIO_000772 23453664 NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_assertion wasDerivedFrom befree-2016 NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_assertion wasGeneratedBy ECO_0000203 NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1057097.RA5FACejR3NpW-dKJivSNjpYF9ylIC8-UU0zhHpJOJFlU130_provenance.