Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_assertion description "[Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_assertion evidence source_evidence_curated NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_assertion SIO_000772 19879169 NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_assertion wasDerivedFrom uniprot-20130724 NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_assertion wasGeneratedBy ECO_0000218 NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.