Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion> ?p ?o ?g. }
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- NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_assertion type Assertion NP742063.RAXTDyO19AkmjTTbQ-4abu46rwPaZZh6n2zEfzbH2OcEI130_head.
- 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.