Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion description "[All patients with classic clinical features of FOP (great toe malformations and progressive heterotopic ossification) have previously been found to carry the same heterozygous mutation (c.617G>A; p.R206H) in the glycine and serine residue (GS) activation domain of activin A type I receptor/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion evidence source_evidence_literature NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion SIO_000772 19085907 NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion wasDerivedFrom befree-20140225 NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion wasGeneratedBy ECO_0000203 NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_provenance.