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- source_evidence_literature type ECO_0000212 NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_assertion description "[We also identified a novel homozygous null PUS1 mutation and novel mitochondrial DNA deletions in two patients with Pearson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_assertion evidence source_evidence_literature NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_assertion SIO_000772 19731322 NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_assertion wasDerivedFrom befree-20150227 NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_assertion wasGeneratedBy ECO_0000203 NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.
- befree-20150227 importedOn "2015-02-27" NP948956.RAjBs9BRnwBC2Tb4tg7sdPkb_EzSNcArjksHvVZ5HcH8w130_provenance.