Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_assertion description "[We report a new DAX1 gene mutation in a family with two affected members: one with neonatal adrenal insufficiency, and a sibling with adrenal hypoplasia and sudden death at 3 years old.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_assertion evidence source_evidence_literature NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_assertion SIO_000772 18038713 NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_assertion wasDerivedFrom befree-20140225 NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_assertion wasGeneratedBy ECO_0000203 NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP615558.RAplaXEUNKv5R4s6WLBR7YGWXNfWtlpVHUOmaRJbbidtw130_provenance.