Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- befree-20150227 importedOn "2015-02-27" NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_assertion wasGeneratedBy ECO_0000203 NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_assertion wasDerivedFrom befree-20150227 NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_assertion SIO_000772 22899009 NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_assertion evidence source_evidence_literature NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.
- NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_assertion description "[Interestingly, mutations in C16orf57 were also observed among patients diagnosed with Rothmund-Thomson syndrome (RTS) and dyskeratosis congenita (DC), which are caused by mutations in genes involved in DNA repair and telomere maintenance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP944800.RAT5_vzbHSxxaTQBZjIbDYVObY7i3mzxhvIAyy2KogJ5k130_provenance.