Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_assertion description "[Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_assertion evidence source_evidence_curated NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_assertion SIO_000772 9758621 NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_assertion wasDerivedFrom uniprot-2016 NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_assertion wasGeneratedBy ECO_0000218 NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9891.RAZocZ4K0sHjtYk5tZjWOXZdO0X8y1uprN1QSxtWYqatI130_provenance.