Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_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." NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_assertion evidence source_evidence_literature NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_assertion SIO_000772 19085907 NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_assertion wasDerivedFrom befree-2016 NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_assertion wasGeneratedBy ECO_0000203 NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.
- befree-2016 importedOn "2016-02-19" NP709501.RAfpA4hccEIB4IYmZTwDjoD2EZmVQ8rybA_GfrPgUy_l0130_provenance.