Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_assertion description "[Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_assertion evidence source_evidence_literature NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_assertion SIO_000772 20034074 NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_assertion wasDerivedFrom befree-20140225 NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_assertion wasGeneratedBy ECO_0000203 NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP204407.RAdXzmDqyAyVlrkJStLBdf48E3qkFZFduRWNJZ3jmeBOo130_provenance.