Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_assertion description "[Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_assertion evidence source_evidence_literature NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_assertion SIO_000772 11955452 NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_assertion wasDerivedFrom befree-20150227 NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_assertion wasGeneratedBy ECO_0000203 NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP441758.RAF9DtN5BloTCVytJw4Y2XQhe_9qJ5ESwmuyM_qmkZ8lE130_provenance.