Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_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." NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_assertion evidence source_evidence_literature NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_assertion SIO_000772 19085907 NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_assertion wasDerivedFrom befree-20150227 NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_assertion wasGeneratedBy ECO_0000203 NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_provenance.