Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_assertion> ?p ?o ?g. }
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- NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_assertion type Assertion NP222188.RA3W9alLoOy_RW614xcJmALntJrfvJ5NlWkhk6WULcWi4130_head.
- 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.