Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_assertion description "[Exome sequencing studies showed a homozygous splice site mutation in SETX, which is known to cause Spinocerebellar Ataxia, Autosomal Recessive 1 (SCAR1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_assertion evidence source_evidence_literature NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_assertion SIO_000772 23947751 NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_assertion wasDerivedFrom befree-20150227 NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_assertion wasGeneratedBy ECO_0000203 NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP867845.RAXCNvXfueSRBF_fAN5t3mJRCkJjNNKj1WCeHVj_YWAOA130_provenance.